2009 Vienna - European Society of Human Genetics

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Clinical genetics and Dysmorphology P02.123 A synonymous mutation in the cFtR gene causes an aberrant splicing in an Italian patient affected by cystic fibrosis. V. Faa’ 1 , A. Coiana 2 , L. Costantino 3 , S. Pirroni 2 , M. Masala 2 , A. Cao 1 , M. Cristina Rosatelli 2 ; 1 Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy, 2 Dipartimento di Scienze Biomediche e Biotecnologie, Universita’ degli Studi di Cagliari, Cagliari, Italy, 3 Policlinico Mangiagalli e Regina Elena, Milano, Milano, Italy. Genotype screening in human disease frequently identifies exon/ intron sequence variations whose association with the disease phenotype is unclear. In fact the pathologic effect of an apparently benign polymorphism, such as codon third position variations, or nucleotide change/ deletion in the intronic non canonical splicing regulatory elements, are difficult to assess. In this work we define the pathogenic role of a synonymous mutation found in an Italian patient affected by cystic fibrosis (CF). It consists of a G>T substitution at nucleotide 2811 on exon 15 of CFTR gene. CFTR mRNA analysis showed that this synonymous mutation created a new 5’ splice site inside exon 15 causing the skipping of 76 amino acids. Furthermore, CFTR mRNA analysis showed that, although this aberrant splicing caused a shorter exon 15, the downstream exonic sequence from exon 16 to the end of the ORF was in frame. Therefore, the skipping of amino acid residues included in exon 15, located in CFTR transmembrane domain MSD7, probably modify the structure and the regulation of the Cl- channel. The growing interest on the potential effects of single-nucleotide changes in coding and non-coding regions on the extent and accuracy of pre-mRNA splicing is expected to have a significant impact on the diagnosis and treatment of genetic diseases. The correct classification of mutations is essential to understand structure-function relationship in the corresponding protein, to assess the phenotypic risk in CF patients and to devise new therapies. P02.124 Identification of a novel CFTR mutation in a patient with cystic fibrosis N. Polgar 1 , J. Bene 1 , K. Bolbas 2 , K. Pongracz 2 , K. Gyurkovits 2 , B. Melegh 1 ; 1 Department of Medical Genetics and Child Development, University of Pecs, Pecs, Hungary, 2 Department of Pediatrics, Hospital for Chest Diseases of the Reformed Church of Hungary, Mosdos, Hungary. Cystic fibrosis (CF) is a most common autosomal recessive disease with a prevalence of 1 in 2500 and a carrier frequency of 1:22. CF is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene expressed in several organs including the lung, the pancreas, and the sweat glands. So far 1604 mutations of the CFTR gene have been reported at the CF Mutation Database. We examined a 17-year-old girl, a daughter of a Hungarian mother and a Nigerian father with a tentative diagnosis of CF. The patient’s history was uneventful until her school years when mild upper respiratory infections appeared with repeated coughing periods and sweatchloride levels of 102mmol/l, however she did not have any intestinal symptoms. As direct sequencing of all 27 exons of CFTR revealed, the patient had two mutations in compound heterozygous form: a 2183 AA>G frameshift mutation in exon 13, described previously in three unrelated CF patients of Sardinian descent; and a mutation not yet reported elsewhere, a 3872 G>A transition in exon 20 resulting in a glycine-glutamate amino acid change at position 1247. We found that the 2183 AA>G frameshift mutation was inherited from her Hungarian mother, while the 3872 G>A transition from her Nigerian father. The latter is also carried by her brother. This novel mutation affects an ATPbinding site of the CFTR protein, and was predicted to be probably damaging by the Poly-Phen prediction software, thus we presume that it is a CF-mutation causing a milder, late-onset form of CF. P02.125 Distribution of CFTR mutations in cystic fibrosis patients from Eastern Hungary I. Balogh1 , B. Nagy1 , F. Gonczi2 , E. Ajzner3 , E. Dzsudzsak1 , J. Kappelmayer1 ; 1 2 University of Debrecen, Debrecen, Hungary, Kenezy Gyula Hospital, Debrecen, Hungary, 3Josa Andras Hospital, Nyiregyhaza, Hungary. Cystic fibrosis (CF) is the most common severe inherited monogenic disease in Caucasians. In addition of the most frequent deltaF508 mutation which is responsible for the 50-65% of the cases, more than 1300 different rare mutations are present in the CFTR gene. Distribution of the different CFTR mutations show large ethnic variability. As an initial attempt to create a mutation testing panel in Hungary, the aim of this study was to determine which mutations are present among Eastern Hungarian CF patients. For the mutation analysis, 43 patients with severe CF phenotype were selected and tested with commercially available multiplex allele specific PCR and oligonucleotide ligation methods. Mutations in both alleles could be identified in 28 patients (65%). 19 patients (44%) were homozygous for deltaF508, while the other 9 patients were compound heterozygous for two mutations. 4 out of them had deltaF508 and CFTRdele2,3(21kb), 2 had deltaF508 and N1303K and one patient had deltaF508 with c.1717-1G>A. The remaining two patients possessed two rare mutations (G542X with N1303K and G542X with R347P). In 12 patients (28%), only one mutation could be detected. 10 patients were heterozygous for delta F508, one patient had G542X and an other had N1303K in heterozygous form. In 3 patients (7%) no mutation was found. In conclusion, using multiplex mutation detection methods, the complete underlying genetic background could be identified in 65% of CF patients form Eastern Hungary, while in other 28%, one mutation was found. The frequency of CFTRdele2,3(21kb) mutation with Slavic origin was surprisingly high (9%). P02.126 Cystic fibrosis liver disease and CFTR or MBL I. M. Ciuca1,2 , I. Popa1,2 , L. Pop1,2 , Z. Popa3 , L. Tamas4 ; 1 2 3 Pediatric II Department, Timisoara, Romania, UMFT V.Babes, Romania, National Cystic Fibrosis Centre, Timisoara, Romania, 4Biochemistry Department, UMFT V Babes, Timisoara, Romania. Background: CFTR (cystic fibrosis transmembrane conductance regulator) gene and MBL (mannose binding lectine) gene seems to influence development of CF liver disease. Severe CFTR genotype and low serum MBL are promoting factor in development of CFLD. Study aim: assessment of CFLD patients in relation with genotype and MBL levels. Methods: Twenty five children with CFLD, followed in our National CF Centre were evaluated. Genotype results were taken from centre’s data base. MBL assay procedure was performed using MBL oligomer ELISA kit. Results: In patients with CFLD, 36% were MBL deficient; from those 66% Δ F508 homozygous, while in patients with normal or increase MBL 56% patients had “severe” genotype. Δ F508 homozygous genotype was found in 43% CFLD patients, each other with a different genotype. Conclusions: A correlation between CFLD and specific genotype or MBL level could not be made. MBL2 genotyping is necessary to identify the patients predisposed to develop CFLD. Heterogeneity of genotypes in CFLD patients suggests the hypothesis of other factors in determination of cystic fibrosis associated liver disease. P02.127 Abnormal ultrasound signs of fetal bowel in cystic fibrosis: a molecular approach. L. Porcaro 1 , L. Costantino 1 , V. Paracchini 1 , D. A. Coviello 1 , P. Capasso 1 , D. Degiorgio 1 , C. Colombo 2 , M. Seia 1 ; 1 Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy, 2 CF Centre, Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy. Hyperechogenic fetal bowel (HFB), a possible prenatal sign of CF, is detected in 0.1−1.8% of pregnancies during the second or third trimester. The prevalence of meconium ileus (MI) is higher among neonates with previous HFB than in neonates with normal ultrasound imaging so there could be a relationship between HFB and MI. The aim was to evaluate usefulness and limits of genetic analysis in
Clinical genetics and Dysmorphology couples with HFB, defining the best testing strategy based on a review of CF patients with MI. Results of genetic analysis on 79 Italian CF patients with MI, and 47 HFB couples were reviewed. Screening for the most frequent mutations in 79 MI patients allowed a 90.5% detection rate, which increased to 96.8% after DNA sequencing, and to 98.1% after MLPA; in two couples of carriers was confirmed CF in the fetus. A third couple terminated the pregnancy of a child F508del/P5L. In a further pregnancy the fetus F508del heterozygote again had HFB. Because of the severity of the ultrasound picture, this pregnancy was terminated.Testing the most frequent mutations and deletions covers 91.8% of CFTR mutations in CF with MI. A similar testing strategy may be appropriate in HFB. We do not suggest to sequence the gene: it’s possible to identify mutations with unknown/ unclear clinical consequences. We also suggest to proceed with extreme caution when counselling parents of a fetus with HFB who are carriers of mild or novel mutations, as their presence in the fetus does not justify a diagnosis of CF. P02.128 Polymorphism of cystic fibrosis in Moldavian patients N. I. Barbova, V. V. Egorov, A. P. Gavriliuc; State Center of Reproductive Health and Medical Genetics, Chisinau, Moldova, Republic of. The aim of presented study was to determine clinical features in patients with cystic fibrosis (CF) in correlation with types of mutations in CFTR-gene. Were investigated 123 patients with CF aged from 2 months to 24 years (55 female and 68 male), during the period 1992 - 2008. Were determined 9 mutations (F508del, G542X, N1303K, W1282X, R117H, G551S, R347P, R334W, R553X). In 3,2% of patients the diagnosis carried out in France and Russia. Adult patients were 18,7%. In 91,9% of cases was mixed CF, in 4,9% - pulmonary and in 3,2% - intestinal CF. The course of CF was severe in 59,4% of cases, moderate in 40,6%. We detected F508del mutation in 57,7% of patients, 16,26% homozygous, 41,46% heterozygous, suffered from severe mixed CF, 39,1% of them died. Were revealed heterozygous mutations: R334W in 2,4%, N1303K in 0,8%, G542X in 0,8% of cases, and 3849+10kbC>T in 0,8% of cases, compounds in 2,4% (F508del/185+1G>T; G542X/ N1303K; 128+1G>A/1677 del); the type of CF was mixed, and course was severe with early manifestations. Mutations were identified in 65,8% of cases, in 43,9% one, in 18,7% two mutations and in 34,2% mutations were not identified. Conclusions. The prognosis and severity of CF in Moldova was determined not only by F508del mutations which frequency was 57,7%, but some mutations in compound, which suggest the necessity to enlarge spectrum of detecting mutations. It is possible the influence of nonidentified major mutation in Moldavian population. P02.129 Assessment of a common variant repeat sequence within a cystic fibrosis newborn screening program M. J. Somerville, S. Bleoo, M. Hicks, C. Walker, K. Sprysak, M. Lilley, S. Christian, L. Podemski, R. Kelln, B. Elyas, S. Haase, S. Ordorica, L. Vicen, P. Scott; University of Alberta, Edmonton, AB, Canada. We have assessed the heterozygote frequency among neonates with hypertrypsinemia (elevated IRT) detected through a provincial CF newborn screening program by monitoring the CFTR mutation spectrum and frequency, including the IVS8-5T variant and tandem TGtract lengths. The Luminex xTAG Cystic Fibrosis Kit, which detects 39 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations as well as 4 CFTR variants was used for molecular analysis. A total of 116,550 neonates were screened for CF using a top 2% cutoff for mutation analysis. Of the 2,331 newborns with increased IRT, one mutation was detected in 176 (heterozygote frequency of 7.6%), or about 2 times greater than in the general population. IVS8 T-tract alleles were only reported in newborns with R117H mutations, in accordance with ACMG recommendations. However, all samples from IVS8-5T carriers were further genotyped for TG-tract lengths. In total, 220 5T alleles were detected (9.4% vs 10% in the general population). However, the 11TG allele had a frequency of 61% in 5T newborns with elevated IRT, as compared to 78% in the general population. Conversely, longer TG tracts were detected in the remaining 39% of newborns compared to 22% in the general population. We did not find an increased frequency of the 5T allele in neonates with hypertrypsinemia, however longer adjacent TG tracts, which are directly proportional to disease penetrance, are more frequent in this cohort of newborns. These findings may warrant further investigation into the applicability of 5T-TG genotyping within the panel of mutations used for CF newborn screening. P02.130 cystic Fibrosis in Rostov region S. Amelina, N. Vetrova; Rostov Medical Institute, Rostov, Russian Federation. Cystic Fibrosis is one kind of single-gene hereditary diseases caused by a mutation in the gene, cystic fibrosis transmembrane regulator. Cystic Fibrosis has high morbidity and mortality. There is a trend of Cystic Fibrosis transforming lethal childhood disease into chronic illness of adolescents and adults. Prevalence of Cystic Fibrosis in Russian Federation is significantly lower comparing to North America and Europe. By now more than 1,000 gene mutations resulting in Cystic Fibrosis are known. The most common gene mutations identified in the Russian Federation population are ΔF508 (53,0%), CFTRdel 2,3 (21kb) (6,4%), N1303K (2,6%), 2184insA (1,8%), 2143delT (1,8%). Newborn screening for Cystic Fibrosis was introduced in 2006 in Russian Federation. This test measures raised blood concentrations of immunoreactive trypsinogen. Since newborn screening was implemented, 105263 children were tested and 139 children had elevated levels of immunoreactive trypsinogen. All children were followed up clinically. DNA analysis and sweat chloride tests were performed , too. DNA tests were done in order to identify 8 major mutations. According to the results of the test 80% of patients had ΔF508 heterozygote mutations. The prevalence of Cystic Fibrosis was 1:9500 in Rostov Region, which is similar with Russian Federation numbers. The most common genetic mutation was ΔF508. The introduction of newborn screening allowed to identify groups of children at risk. . Modern DNA analyses allow us to establish diagnoses of Cystic Fibrosis and to implement appropriate therapy before clinical symptoms of the disease become apparent. P02.131 New pathogenic mutation in cystic fibrosis patient S. Dadgar, S. Dadgar, H. Aryan, M. Houshmand; Special Medical Center, Tehran, Islamic Republic of Iran. Cystic fibrosis (CF) is an inherited disease that affects the respiratory tract, intestine and many body organs because of this called multisystem desease. In addition to affectance of respiratory and digestive system, CF can lead to diabetes, polyps in nose and infertility in men. CF patients have shorter life expectency. Cystic fibrosis (CF) is the most common severe autosomal recessive disorder in Caucasian populations and affects 1 in 2500 live births. Mutations in the gene Cystic Fibrosis Transmembrane conductance Regulatory (CFTR) which encodes a protein expressed in the apical membrane of exocrine epithelial cells, leads to this disorder. This gene has 27 exons. To date over 1400 different mutations in this gene have been identified. The proband was a 3.5 years old that was born in a third degree familial marrige with a weight 3100 grams. Poor sucking, cough and diarrhea were seen from the first days of birth. At present, the chief complain of the patient are pulmonary sticky sputum and cough. The patient was analysed for mutations by PCR and sequencing methods for CFTR gene. The parents of patient were also analysed to confirm the found mutation. A homozygout T deletion in exon 13, codon 754 was found in the patient DNA sample. This mutation in heterozygout state was found in parents. This mutation changes frameshift of Cystic Fibrosis Transmembrane conductance Regulatory protein. We believed that this mutation is pathogenic. More investigation in cellular level needs to confirm our results. P02.132 mutation detection in sporadic NF1 S. Bendova1 , A. Krepelova1 , B. Petrak2 , T. Marikova1 ; 1Department of Biology and Medical Genetics, University Hospital Motol and 2nd Medical School, Charles University, Prague, Czech Republic, 2Department
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Volume 17 Supplement 2 May 2009 www
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European Society of Human Genetics
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Table of Contents spoken Presentati
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Plenary Lectures PL2.2 massive para
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Concurrent Symposia s01.1 Genome va
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Concurrent Symposia Monogenic diabe
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Concurrent Symposia invariable in t
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Concurrent Symposia s11.2 clinical,
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Concurrent Symposia s13.2 A novel g
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Concurrent Sessions c01.1 mRNA-seq
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Concurrent Sessions velopmental del
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Concurrent Sessions development of
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Concurrent Sessions c04.6 Duplicati
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Concurrent Sessions genes to be rec
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Concurrent Sessions c07.5 Prenatal
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Concurrent Sessions with familial h
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Concurrent Sessions University of W
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Page 47 and 48: Genetic counseling Genetics educati
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Page 105 and 106: Cytogenetics P03. cytogenetics Recu
Page 107 and 108: Cytogenetics use of metaphase analy
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Page 111 and 112: Cytogenetics P03.028 HLA B27 allele
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Page 127 and 128: Cytogenetics somy for chromosome 2.
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Page 133 and 134: Cytogenetics For further characteri
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Cytogenetics regions with mental /d
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Cytogenetics donation program of po
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Cytogenetics P03.165 interpretation
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Cytogenetics P03.174 Deletion of th
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Cytogenetics P03.183 An atypical 7q
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Cytogenetics spermia, 11 oligosperm
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Reproductive genetics and social fa
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Reproductive genetics mosomal chang
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Reproductive genetics two cohorts w
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Reproductive genetics the 147 SC ch
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Prenatal and perinatal genetics P05
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Prenatal and perinatal genetics and
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Prenatal and perinatal genetics fro
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Prenatal and perinatal genetics dev
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Prenatal and perinatal genetics in
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Prenatal and perinatal genetics obj
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Prenatal and perinatal genetics P05
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Cancer genetics P06.005 tiling reso
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Cancer genetics tient group in whic
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Cancer genetics chronic inflammatio
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Cancer genetics licular thyroid can
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Cancer genetics also studied. In 31
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Cancer genetics tile polyposis. We
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Cancer genetics Upon recombinant ex
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Cancer genetics variant allele was
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Cancer genetics from patients with
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Cancer genetics tion (PAX5 and GATA
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Cancer genetics scribed underexpres
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Cancer genetics of the ZIC gene fam
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Cancer genetics Materials and metho
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Cancer genetics the past and it is
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Cancer genetics P06.130 spectrum an
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Cancer genetics P06.139 the role of
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Cancer genetics and MSH2 germline m
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Cancer genetics P06.155 New roles f
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Cancer genetics screening was perfo
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Cancer genetics val (DFI) than pati
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Cancer genetics is hTERC gene ampli
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Cancer genetics on chromosome regio
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Cancer genetics preferentially dupl
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Cancer cytogenetics mutations in co
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Cancer cytogenetics P07.08 molecula
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Statistical genetics, includes Mapp
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Complex traits and polygenic disord
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Evolutionary and population genetic
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Genomics, Genomic technology and Ep
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Molecular basis of Mendelian disord
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Metabolic disorders P12.167 Pattern
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Metabolic disorders PKU. BH4 challe
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Metabolic disorders catepe Universi
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Metabolic disorders respectively. G
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Metabolic disorders enzymaticaly co
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Metabolic disorders Normal Affected
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Therapy for genetic disorders in th
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Therapy for genetic disorders P14.0
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Therapy for genetic disorders of me
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Laboratory and quality management P
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Laboratory and quality management T
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Molecular and biochemical basis of
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Genetic analysis, linkage ans assoc
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Author Index Allanson, J.: P02.140
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Author Index 0 Barbacioru, C.: C01.
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Author Index 0 Bonneau, D.: C16.2,
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Author Index 0 Chakravarti, A.: C13
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Author Index 0 Dan, D.: P01.39, P14
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Author Index 0 Duskova, J.: P06.012
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Author Index Franke, A.: P09.056 Fr
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Author Index Grasso, R.: P02.025 Gr
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Author Index Holder-Espinasse, M.:
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Author Index Jurkiewicz, E.: C14.5
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Author Index Kooper, A. J. A.: P05.
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Author Index Li, K. J.: P11.086 Li,
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Author Index Martinet, D.: P03.095
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Author Index Moorman, A. F. M.: P16
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Author Index P10.57, P10.82 Oguzkan
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Author Index P09.054, P09.085, P09.
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Author Index P16.01 Renieri, A.: P0
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Author Index Santorelli, F.: P08.55
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Author Index Sinke, R. J.: P02.020
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Author Index Taheri, M.: P04.33, P0
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Author Index Valentino, P.: P02.064
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Author Index Wiemer-Kruel, A.: P14.
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Keyword Index 1 10q22 deletions: P0
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Keyword Index autosomal dominant re
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Keyword Index CLA: P06.073 CLCN1 ge
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Keyword Index DMD: P16.40, P16.41,
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Keyword Index gene networks: S12.2
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Keyword Index hydrocephaly: P05.11
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Keyword Index malignant hyperthermi
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Keyword Index NAT2: P12.118 natridi
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Keyword Index Polymalformations: P0
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Keyword Index Sardinia: C09.6 Sardi
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Keyword Index TNFalpha: P08.61, P09
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2009 Vienna - European Society of Human Genetics

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