2009 Vienna - European Society of Human Genetics

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Cancer genetics germline APC deletions in the French patients affected with classic FAP, and to characterize the different breakpoints. All samples were hybridized in a 244k oligonucleotide CGH-arrays. In parallel, we also used a dedicated high-resolution oligonucleotide CGH array to exactly size the deletions. We screened 126 patients with polyposis without any point mutation in the APC gene by using Multiplex Ligation-dependent Probe, and were able to detect 62 large rearrangements (8% of all deleterious mutations). No rearrangement was recurrently found. In the very large deletions with breakpoints outside the APC gene, the size ranged from 50kb to 17Mb. We found 7 hot regions with more than 2 breakpoints within 30kb. Finally, we characterized a new large rearrangement with an insertion-deletion. High-resolution oligonucleotide array-CGH showed clearly its interest in the characterization of large rearrangements of the APC gene. Screening for APC mutations in FAP patients should benefit of this technique to identify precisely the origin and better understand the underlying molecular mechanisms. P06.160 A remarkable APC mosaicism with two mutant alleles S. Baert-Desurmont 1 , N. Piton 1 , J. Bou 1 , J. Tinat 1 , R. Guimbaud 2 , J. Selves 3 , T. Frebourg 1 ; 1 Inserm U614, Faculty of Medicine University of Rouen, and Department of Genetics, University Hospital, Institute for Medical Research, Rouen, France, 2 Department of Cancer Genetics, University Hospital and Claudius Regaud Institute, Toulouse, France, 3 Department of Pathology, University Hospital, Toulouse, France. It has recently been estimated that APC mosaicism accounts for 11 % of the sporadic cases of Familial Adenomatous Polyposis (FAP). We report a remarkable APC mosaicism characterized by the presence of two mutant alleles. The index case presented a typical form of FAP diagnosed at age 29. APC sequencing revealed a heterozygous deleterious mutation within exon 15 (c.2099del, p.Asp700AlafsX18). This mutation was inherited from his father who presented an attenuated form of FAP diagnosed at age 54. Analysis of APC in an index case’s brother detected, unexpectedly, another mutation of unknown biological significance, affecting the same nucleotide (c.2099A>C, p.Asp700Ala). Haplotype analysis showed that both mutations were on the same paternal allele. In the index case’s father, specific analysis of the c.2099 nucleotide by SNaPshot allowed us to detect the wild type and both mutant alleles (c.2099del and c.2099A>C) in lymphocytes, normal colorectal tissue, adenoma, adenocarcinoma, normal liver tissue and liver metastasis, indicating therefore a remarkable mosaicism affecting endoderm and mesoderm derivatives. The presence of these two distinct alterations at the same position might be explained by two hypotheses: The first one is an early post-zygotic mutation (c.2099del or c.2099A>C) followed by an incorrect repair (c.2099A>C or c.2099del, respectively); the second one is a de novo pre-zygotic deleterious mutational event (c.2099del) in an index case’s paternal grand-parent, followed by an incorrect post-zygotic reversion (c.2099A>C) in the index case’s father. Since sequencing and SNaPshot analyses showed that the c.2099del mutation is the predominant mutation, this second hypothesis is the preferred one. P06.161 APc gene mutation status in Polish FAP patients A. Plawski1 , M. Podralska1 , R. Slomski1 , M. Skrzypczak1 , T. Banasiewicz2 , P. Krokowicz2 ; 1 2 Institute of Human Genetics, Poznan, Poland, University of Medical Sciences, Poznan, Poland. Familial adenomatous polyposis (FAP) is hereditary predisposition to occurrence numerous of polyps in the colon and rectum. There is a high heterogeneity with regard to the number and time of the occurrence of polyps. FAP is associated with mutations in the APC tumour suppressor gene, which was described in 1991. Since then, many studies have been done to analyse the distribution of mutations in individual populations and to determine the function of the gene and a diagnostic approach to FAP. Here the APC gene was studied with respect to the occurrence of small mutations and large rearrangements in 300 unrelated Polish FAP families. Ninety-seven mutations were identified in 164 families. Out of these mutations, 80 were small mutations, including 58 small mutations that were first identified in the Polish population (42 novel and 16 described previously). An increased frequency of mutation c.3927_3931delAAAGA was observed in 10% of the Polish group. Seventeen large rearrangements were found in 29 families. Out of those rearrangements, 8 repeat rearrangements occurred in 20 families. A problem in fast molecular diagnostics of FAP is a high heterogeneity of mutations in the APC gene. It seems that a multiplex ligation-dependent probe amplification test and searching for small mutations by the use of screening methods at the 5’ end of exon 15 and exons 14, 9, 11, 13, 5, and 3, help to improve the molecular diagnostics of FAP in Polish patients. The study was supported by the Polish Ministry of Science and Higher Education project no. N401331936 P06.162 APc gene mutations in iranian patients with familial adenomatous polyposi (FAP) P. Rostami, B. Noorinayer, M. Chiani, M. Shahmoradgoli, M. Tashakori, F. Ghaderi, S. Ebrahimkhani, M. Ghafar zadeh, M. Soltani, M. Zali; Research Center for Gastroenterology and Liver Disease, shahid beheshti university, tehran, Islamic Republic of Iran. Background: Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome characterized by development of hundreds to thousands of adenomatous polyps in the colon. In 80-90% of the cases of classic FAP, mutations in the adenomatous polyposis coli (APC) gene is the cause underlying the syndrome. The molecular epidemiology of the APC gene mutations has not been investigated among the Iranian patients. In this study we will report on the first systematic investigation of the APC gene mutations. Methods: Patients with FAP were enrolled into this study through referral to our genetic counseling clinic. For genetic tests genomic DNA was extracted from the 10ml of peripheral blood. Specific primers were used to amplify coding regions of the APC gene. Amplicons was bidirectionally sequenced. Results: 25 probands was registered with the mean age of diagnosis 28.91and 64% male and 36% female. 52% had an autosomal dominant pattern of inheritance and 48% had negative familial history. 3 nonsense, 3 missense and 2 sense mutations were found. The nonsense mutations were Q264X, Q1303X, S1315X and Q264X. The missense mutations were V1822D, E1317Q, N944I and sense mutations were G1678G and T1493T. Conclusion: APC mutations are found among the FAP families in Iran. The complete mutational investigation of these families helps in preclinical diagnosis of unaffected family members and may lead to potential founder mutations underlying this disease in Iran. P06.163 Molecular diagnostics in the Czech FAP families M. Florianová 1 , L. Schwarzová 1 , J. Štekrová 1 , K. Hirschfeldová 1 , Z. Kleibl 2 , V. Kebrdlová 1 , M. Kohoutová 1 ; 1 Institute of Biology and Medical Genetics of the First Faculty of Medicine and General Teaching Hospital, Charles University, Prague, Czech Republic, 2 Institute of Biochemistry and Experimental Oncology, the First Faculty of Medicine, Charles University, Prague, Czech Republic. Familial adenomatous polyposis (FAP) is autosomal dominant syndrome associated with germline APC mutation with almost 100% risk of colorectal cancer. The typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by extracolonic manifestations. An attenuated FAP (AFAP) is characterized by less than 100 adenomas and later onset of the disease. The mutations in MUTYH gene leads to MUTYH associated polyposis (MAP). MAP is autosomal recessive form of polyposis with manifestation similar to AFAP. We analyzed the APC gene for germline mutations in 340 FAP/AFAP patients. Mutation screening was performed using DGGE. DNA fragments showing an aberrant electrophoretic banding pattern were sequenced. In addition, all APC-mutation-negative probands were screened for large deletions of the APC gene using multiplex ligation dependent probe amplification (MLPA). We identified 80 germline mutations among 126 unrelated probands including large deletions. Nine germline APC mutations detected last year have not been reported yet, which gives evidence of great variability of mutations. We examined the whole MUTYH gene in 120 APC-mutation-negative probands, thereto we screened for mutations in the exon 7 and 13 of MUTYH gene in 72 APC-mutation-negative probands. Mutation 0
Cancer genetics screening was performed using denaturing high performance liquid chromatography (dHPLC) or high resolution melting (HRM). Samples showing unique profiles were sequenced. We detected 2 patients with biallelic mutation in MUTYH and 6 patients with monoallelic MUTYH mutation. Now we have started to test the presence of MSH6 mutation in carriers of monoallelic MUTYH mutation. Supported by the VZ MSM0021620808 of the Czech Republic. P06.164 Breakpoint identification of large STK11 germline deletions in Peutz-Jeghers syndrome patients using fine-tiling CGH arrays M. Plasilova 1 , B. Röthlisberger 2 , A. R. Huber 2 , K. Heinimann 1 ; 1 Research Group Human Genetics, Division of Medical Genetics UKBB, Department of Biomedicine, University of Basel, Basel, Switzerland, 2 Center of Laboratory Medicine, Canton Hospital, Aarau, Switzerland. Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited cancer predisposition syndrome characterized by the presence of hamartomatous polyps, mucocutaneous pigmentation, and an increased risk for malignancies of the colorectum, stomach, pancreas, breast, and ovaries. It is caused by germline mutations in the serine/threonine protein kinase 11 (STK11, also called LKB1) tumour suppressor gene. Germline STK11 mutations can be identified in 80 to 94% of PJS patients when combining a screening for point mutations and large deletions using direct sequencing and multiplex ligation-dependent probe amplification (MLPA), respectively. With the aim to identify large STK11 deletions and simultaneously delineate the breakpoints with high precision (approx. 100-200bp), we designed a custom fine-tiling CGH array with a median probe spacing of 10bp covering the entire STK11 gene including 135 kb of genomic sequence up- and downstream of the gene, and applied the technique on 5 SKT11 deletion carriers previously identified by MLPA as well as on 2 mutation-negative PJS patients. We will report on the overall accuracy of the finetiling CGH array in fine-mapping the breakpoints and thus enabling cost- and time-saving carrier screening of at risk-family members by subsequent PCR-based fragment length analysis/direct sequencing. P06.165 Germline mutations of the STK gene and clinical findings in czech Peutz-Jeghers families P. Vasovcak 1 , A. Puchmajerova 1 , P. Plevova 2 , J. Roubalik 3 , A. Krepelova 1 ; 1 Department of Biology and Medical Genetics, Charles University 2nd Medical School and University Hospital Motol, Praha, Czech Republic, 2 Department of Medical Genetics, Faculty Hospital, Ostrava, Czech Republic, 3 Digestive endoscopy Centre, Bata Hospital, Zlin, Czech Republic. Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomatous polyposis. PJS patients have increased risk of developing cancer over the general population, predominantly in gastrointestinal tract. Germline mutations in the serine/threonine kinase 11 (STK11) gene have been found to be responsible for the disease. Here we report clinical findings and molecular analysis of 9 individuals from 6 Czech families. We analyzed promotor and the entire coding region including the splice-site boundaries of the STK11 gene in genomic DNA of the probands by sequencing analysis and multiplex ligation probe-dependent amplification (MLPA) assay. By direct sequencing of the STK11 gene, we identified two frameshift mutations (c.350dupT and c.589_597+2del11) in 3 individuals from two families. The remaining 6 patients were examined by MLPA method and 4 patients from two families harboured large deletions (c.-277-?_290+?del and c.-1114-?_1365+?del). No mutation was identified in two patients with sporadic disease. In conclusion, we found germline mutations in five familial and two sporadic cases. One patient with frameshift mutation (c.350dupT) and severe phenotype died due to gastric cancer at her 29, the other probands were without any malignancy up to date. This is the first report dealing with PJS patients in Czech Republic. Grant support: VZ MZO 00064203 P06.166 interphase FisH detection of prognostically important chromosomal aberrations in B-cLL V. Holubova1 , M. Stoklasova1 , J. Sobotka1 , M. Brejcha1 , J. Gumulec2 , D. Adamova3 , S. Blahutova3 , C. Bodzasova2 , E. Bogoczova4 , V. Heinzova3 , D. Janek5 , Z. Jehlikova6 , D. Klodova1 , I. Krajsova7 , J. Laska8 , N. Petricova9 , N. Rytikova9 , M. Urbankova6 , M. Wrobel1 , J. Zivna10 , M. Radina1 ; 1 2 Mendel Cancer Center, Novy Jicin, Czech Republic, Faculty Hospital Ostrava, Czech Republic, 3Silesian Hospital in Opava, Czech Republic, 4Hospital Vitkovice - Ostrava, Czech Republic, 5Hospital Karvina-Raj, Czech Republic, 6Hos pital Sumperk Inc., Czech Republic, 7Hospital Bruntal Inc., Czech Republic, 8 9 Hospital Cesky Tesin Inc., Czech Republic, Hospital Krnov, Czech Republic, 10Hospital Hranice Inc., Czech Republic. Chromosomal aberrations are independent prognostic factors in Bcell chronic lymphocytic leukemia (B-CLL). Cytogenetic abnormalities identify groups of patients with different time to progression and overal survival. There are two main risk groups recognized. Low-risk patients with normal karyotype or 13q deletion as a sole abnormality have excellent prognosis. High-risk patients with 11q deletion and particularly 17p deletion do not respond to conventional therapy and tend to have a rapidly evolving disease. Prognosis of patients with trisomy 12 is intermediated. Interphase fluorescence in situ hybridization (I-FISH) is currently preferred molecular-cytogenetic method for identification of the chromosome aberrations in B-CLL. The aim of this study was the detection of prognostically important chromosomal aberrations in B-CLL patients and comparison of their prognostic significance with the other biological and clinical factors. We performed I-FISH analysis using a DNA probe set to detect deletions 17p, 11q, 13q, trisomy 12 and translocations involving 14q32 on bone marrow and peripheral blood samples of 480 B-CLL patients. Chromosomal aberrations analyzed by I-FISH were found in 73% of patients including 54% with single aberration, 17% with two and 2% with three or more aberrations. The most frequent aberration was 13q14 deletion found in 39% of patients, followed by 11q23 deletion in 12%, trisomy 12 in 11%, and 17p13 deletion in 9% of patients. Rearrangement involving 14q32 was found in 1% of patients. Correlations of I-FISH results and some clinical and laboratory findings will be presented. P06.167 Array CGH identifies potential candidate genes in AML without recurrent molecular and cytogenetic aberrations S. Breitenfellner1 , R. Marschon1 , W. Kranewitter1 , G. Tschurtschenthaler1 , H. Duba2 , G. Webersinke1 ; 1 2 Hospital Barmherzige Schwestern, Linz, Austria, General Women´s and children´s Hospital, Linz, Austria. Introduction: Chromosomal and molecular aberrations are an integral part of AML classification and influence prognosis and therapy. Nevertheless AML with none of the classical genetic changes do exist and one can assume other genetic events in these cases leading to different expression of the disease. Therefore we analyzed AML without recurrent aberrations for possible candidate genes by array CGH. Methods: Bone marrow from cytological and immunophenotypical confirmed AML patients was analyzed by conventional cytogenetics (GTG-Banding), FISH and PCR methods for typical aberrations indicated by WHO. DNA from inconspicuous samples was hybridized on Affymetrix SNP 6.0 Arrays featuring 1.8 million markers, SNPs and CNVs (copy number variations), one half each. The majority of gains and losses detected by Affymetrix genotyping console 3.0 were CNVs and excluded in our study. Results: About two thirds of the AML samples show at least one domain carrying a potential tumor associated gene. These include, for example, ZBTB16, IL1R2 or EPS8, which are important for regulation of apoptosis, cell cycle progression, and signal transduction. Chromosomal changes leading to the deregulation of the involved pathways may potentially be causative for the development of AML. Conclusions: Array CGH seems to be a potent method for the identification of new candidate genes in AML without recurrent cytogenetic and molecular aberrations. 0
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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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Concurrent Sessions with this, we f
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Concurrent Sessions had immotile ci
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Concurrent Sessions abnormal glycos
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Concurrent Sessions showers’ and
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Concurrent Sessions partial gene de
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Concurrent Sessions leads to distre
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Genetic counseling Genetics educati
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Clinical genetics and Dysmorphology
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Cytogenetics P03. cytogenetics Recu
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Cytogenetics use of metaphase analy
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Cytogenetics 2: mother’s age < fa
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Cytogenetics P03.028 HLA B27 allele
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Cytogenetics karyotype revealed a p
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Cytogenetics drome is estimated at
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Cytogenetics P03.057 Pathological c
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Cytogenetics grandmother and 2 mate
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Cytogenetics method used to detect
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Cytogenetics P03.082 High-resolutio
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Cytogenetics All detected anomalies
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Cytogenetics somy for chromosome 2.
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Cytogenetics cially in chromosome 4
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Cytogenetics (59.390.122 to 62.021.
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Cytogenetics For further characteri
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Cytogenetics 9p duplication. This c
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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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Page 171 and 172: Cancer genetics P06.005 tiling reso
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Page 183 and 184: Cancer genetics Upon recombinant ex
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Page 189 and 190: Cancer genetics tion (PAX5 and GATA
Page 191 and 192: Cancer genetics scribed underexpres
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Page 195 and 196: Cancer genetics Materials and metho
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Page 201 and 202: Cancer genetics P06.139 the role of
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Page 209 and 210: Cancer genetics val (DFI) than pati
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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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