European Human Genetics Conference 2007 June 16 – 19, 2007 ...

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Clinical genetics brachydactyly and generalized hypotonia. Discussion: Trisomy 18, is the second most common autosomal trisomy in newborns. The frequency of the associated findings are: heart (38.1%), gastrointestinal (25.4%), limb (24.6%), head (20.3%), eye (11%) and genital anomalies (9.3%). Conclusion: We present a case with trisomy 18, showing unusual clinical findings. This case should make us to be careful at the time to establish the diagnosis and to suspect a chromosomopaty. By the wide clinical spectrum of this syndrome the karyotype give the final diagnosis. P0259. A novel mutation in SLC19A2 gene in an Iranian patient with TRMA syndrome. S. Zare 1,2 , b. keikhaei 3,4 , f. mahjoubi 1,5 , M. T. akbari 1,6 ; 1 Akbari Medical Genetic labaratory, No.98, Taleghani Street, Tehran, Islamic Republic of Iran, 2 Islamic Azad Unversity Science and Research Campus, Tehran, Islamic Republic of Iran, 3 Faculty of Medicine, Ahwaz Medical Science University, Tehran, Islamic Republic of Iran, 4 Ahwaz Research Center for Thalassemia and Hemaoglobinopathy, Tehran, Islamic Republic of Iran, 5 National Research Center for Genetic Engineering & Biotechnology, Tehran, Islamic Republic of Iran, 6 Department of Medical Genetics, Tarbiat Modares University, Al-Ahmad Expressway, Tehran, Islamic Republic of Iran. Thiamine - Responsive Megaloblatic Anemia (TRMA) or Roger syndrome is a rare autosomal recessive disorder with childhood onset. This disorder is characterized by the occurrence of multiple clinical manifestations including megaloblastic anemia, diabetes mellitus and sensorineural deafness, responding in varying degrees to thiamine treatment. The gene SLC19A2 which codes for a thiamine transporter is responsible for this syndrome and it is located at chromosome 1q. To date 15 different mutations have been reported in 28 families worldwide. Here we present a new case with a novel mutation, a 20 years old male patient with characteristic features of TRMA with good response to thiamine therapy. His SLC19A2 gene was screened by direct sequencing and a single nucleotide base substitution in homozygous form was found. This mutation leads to a premature stop codon (W233X), and can be considered diseases causing because of its nature. Considering the limited number of affected cases reported so far in the literature, it is evident that TRMA is a very rare condition with heterogenous molecular basis. As far as its distribution is concerned, out of 28 reported TRMA families worldwide, five families including this present case are from Iran who had different mutations. The rest of the patients were from Indian subcontinent (India, Kashmir and Pakistan) suggestive of higher frequency in Asian populations. P0260. Six pregnancies in a woman with Turner syndrome, including a case of holoprosencephaly E. S. Ramos1 , A. Araújo1 , C. D. Martinhago1 , L. R. Martelli1 , R. M. Reis1 , D. G. Melo2 ; 1 2 University of São Paulo, Ribeirao Preto, Brazil, Federal University of São Carlos, São Carlos, Brazil. Ovarian failure is a typical feature of Turner syndrome (TS). Only 2% of these patients (pure 45,X or mosaic) have natural pregnancies. Furthermore, these pregnancies have been plagued not only by chromosome anomalies and fetal malformations, but also by spontaneous abortions. We report an unusual case of a woman with TS and chromosome mosaicism (karyotype 45,X[2]/46,X,r(X)[4]/46,XX[94]) and normal fertility. At 12 years and 6 months of age, her height was 127.5cm and she was forwarded to a clinical evaluation due to short stature. Menarche was at age 13 years and her menstrual cycle had varied from 25 to 30 days. At 24 years of age, she has had six documented pregnancies, including one child with holoprosencephaly with normal karyotype. For patients with TS and spontaneous puberty, genetic counseling and prenatal diagnosis are indicated. P0261. Turner Syndrome mosaicism: an unusual case with a large dicentric marker chromosome: 45,X/46,X,der(X), ter rea(X;X), de novo. A. Nucaro 1 , P. Melis 2 , M. Casini 3 , R. Rossino 4 , M. Cau 4 , R. Congiu 4 , M. Melis 4 , S. Loche 3 ; 1 Istituto di Neurogenetica e Neurofarmacologia, Monserrato( Cagliari), Italy, 2 Dipartimento di Scienze Pediatriche e Medicina Clinica, University Cagliari, Italy, 3 (2) Servizio di Endocrinologia Pediatrica,, Ospedale Regionale Microcitemie, ASL8 Cagliari, Italy, 4 (4) Dipartimento di Scienze Biomediche e Biotecnologie, University Cagliari, Italy. Turner’s Syndrome(TS) is characterized by the total or partial absence of one normal second X chromosome. TS occurs in 1/2500-3000 liveborn females. The phenotype is variable and include short stature and gonadal dysgenesis. Approximately 50 percent of the patients has a 45,X0 karyotype with no second sex chromosome, and 5 to 10 percent have a duplication (isochromosome) of the long arm of one X. Most of the remaining cases involves mosaic karyotypes in which only a proportion of cells is 45,X, with one or more additional cell lineages. X/X translocations are quite rare in man. The effect of this anomaly on the phenotype depends on the amount of deleted material and whether the chromosomes are joined by their long or short arm. We report an unusual case of Turner’s Syndrome mosaicism in a sixteen year old girl, who was referred to our Institution for primary amenorrhea and short stature. Endocrine evaluation revealed hypergonadotropic hypogonadism, which required a study of the karyotype. Cytogenetic analysis, performed on peripheral blood leucocytes, showed a 45,X/46,X,der(X),ter rea (X;X)de novo karyotype. The prevalent cell line was 45,X(90% cells). A second cell line(10% cells) showed a very large marker chromosome, similar to a large metacentric chromosome. FISH and molecular analysis revealed that the marker chromosome was dicentric and totally derived from the paternal X chromosome. To the best of our knowledge, this is the first reported case of TS mosaicism with a marker 45,X/46,X,der(X), de novo, that has been characterized by molecular and FISH analysis. P0262. Molecular investigation of Angelman and Prader Willi syndromes. Screening for UBE3A mutations: preliminary results E. Tzagaraki1,2 , C. Sofocleous1 , S. Kitsiou1 , H. Frysira1 , G. Goulielmos2 , E. Kanavakis1 , A. Mavrou1 ; 1 2 University of Athens, School of Medicine, Athens, Greece, University of Crete, School of Medicine, Herakleion, Greece. Molecular defects within chromosomal region 15q11- q13, which contains genes regulated by the imprinting centre (IC), are responsible for Angelman (AS) and Prader Willi (PWS) syndromes. Differentially methylated regions of the IC play a major role in the establishment of the methylation pattern and genomic imprinting of the locus. PWS is considered a “contiguous gene syndrome”, while UBE3A imprinted gene has been implicated as the AS gene, since genomic mutations of which have been identified as the sole molecular defect in AS patients. Routine molecular analysis with Methylation Specific PCR and Dinoucleotide Repeat Polymorphism analysis was performed in 185 patients referred for AS (87) and PWS (98).The diagnosis was confirmed in 11 AS and 16 PWS patients. 30 patients referred for AS were further analyzed by mutation screening of the UBE3A gene by automated sequencing of exons 9,12, 15 and 16. Large deletions were excluded by the presence of the expected PCR product and no mutations were identified. 4- 6% of AS patients are predicted to have mutations in UBE3A gene, most of which are located in exons 9, 12, 15, 16. Since 75- 80% of these mutations are familial characterization of the defect and genetic counselling are essential. Although this study, has not as yet detected any mutations, further screening of all exons of UBE3A, as well as other genes, related to AS like phenotypes (MECP2 gene) will probably identify mutations, confirming the clinical diagnosis and providing information about the molecular mechanisms. P0263. The “characteristic” clinical phenotype of maternal UPD(14): does it really exist? A clinical, cytogenetic, and molecular study of three new unrelated subjects M. Giovannucci Uzielli1 , N. Dayan1 , L. Giunti2 , S. Guarducci2 , V. Gimino1 , A. Zeffiri1 , E. Lapi2 , U. Ricci2 , M. Ottaviani1 , M. Isoldi1 , G. Scarselli1 ; 1 2 University of Florence, Florence, Italy, Children’s Hospital “Anna Meyer”, Florence, Italy. Maternal uniparental disomy for chromosome 14 [UPD(14)mat] is firmly associated with abnormal phenotypes, including pre- and postnatal growth retardation, features overlapping PWS, and other abnormal clinical aspects. The presence, in a diploid genome, of a chromosome pair (or of a chromosome fragment) derived from one genitor, carries two main types of developmental risk: the occurrence of an imprinting disorder, or the inheritance of a duplicated mutant of a recessive trait leading to the homozygosity (Engel E., 2006). 2
Clinical genetics These preliminary remarks well support the hard comparison of the clinical phenotype and natural history of three new italian patients, two females and one male, with complete maternal isodisomy (two cases) or heterodisomy of chromosome 14. Growth parameters, including pre- and postnatal length, weight, and OFC, heavily differ from borderline values to a hypochondroplasia-like phenotype. Similar variability was observed for the psychomotor development, completely normal in a subject, respectively mildly or seriously retarded in the two others. Feeding problems and obesity also differentiate the natural history of the three subjects. Precocious puberty was observed only in one of the two girls. In conclusion, we confirm the advisability of considering upd(14)mat in patients with low birth weight, growth retardation, neonatal feeding problems, muscular hypotonia, motor delay, precocious puberty and truncal obesity, as well as in patients with PWS like phenotype, negative for SNRPN mutation. The rapid testing, by using the methylation status of the imprinted MEG3 locus represents a new useful diagnostic tool. P0264. Molecular Analysis of Usher Syndrome Types 1 and 2 in Iranian Usher Patients K. Kahrizi 1 , G. Asaadi Tehrani 1,2 , N. Sadeghpour 1 , N. Bazazzadegan 1 , M. Mohseni 1 , M. Jaberi 3 , K. Jalalvand 1 , S. Arzhangi 1 , H. Emamjomeh 4 , R. J. H. Smith 5 , H. Najmabadi 1 ; 1 Genetic Research Center, University of Social Welfare and Rehabilitation Science, Tehran, Islamic Republic of Iran, 2 Genetic Department, Science and Research Unit , Islamic Azad University, Tehran, Islamic Republic of Iran, 3 Retinitis Pigmentosa Institute, Tehran, Islamic Republic of Iran, 4 Research Center of Ear, Nose, Throat, and Head and Neck Surgery, Tehran, Islamic Republic of Iran, 5 Molecular Otolaryngology Research Laboratories , Department of Otolaryngology Head and Neck Surgery , University of Iowa, Iowa, IA, United States. Usher syndrome (USH) is the most frequent cause of combined deaf- blindness. It is clinically and genetically heterogeneous and mainly inherited as an autosomal recessive trait. A total of 12 loci have been reported to be associated with the usher syndrome, assigned to the USH types (USH1A-G, USH2A-C and USH3A). From the three types are known for usher syndrome, type 1 and 2 are the most frequent forms and type 3 is the modest form, so the objective of this study was to investigate USH1 loci and USH2B between USH2 loci. We have performed linkage analysis for 30 families using STR polymorphic markers, for DFNB2, DFNB12, DFNB18, DFNB23 and DFNB6 which mutation in the gene located in these loci cause ARNSHL as the same as USH1B, USH1C, USH1D, USH1F and USH2B. Our data up to now showed that in three families 3 STR markers (D10S1432, D10S537 and D10S535), used in this investigation linked to DFNB12, in which results conclude usher syndrome 1D in these families and in one family 3 STR markers ( D10S1226, D10S546 and D10S1762 ) linked to DFNB23, which is related to usher syndrome 1F in this family. We found a mutation in MYO7A (USH1B) and a mutation in VLGR1(USH2C). Based on our results we suggest that the gene CDH23 causing non syndromic autosomal recessive deafness (DFNB12) and deafness associated with retinitis pigmentosa and vestibular dysfunction (USH1D) has a higher prevalence in our population in comparison with other Usher loci. P0265. The development of uterine leiomyoma is associated with Val158Met polymorphism in COMT gene and the 3´-untranslated ApaI-IGF2 gene polymorphism in Russian population (Bashkortostan) O. Egorova 1 , M. Bermisheva 1 , E. Khusnutdinova 1 , N. Glebova 2 , A. Dodonov 2 ; 1 Institute of Biochemistry ang Genetics, Ufa Scientific Center of Russian Academy of Sciences, Ufa, Russian Federation, 2 Bashkortostan State Medical University, Ufa, Russian Federation. Leiomyoma, the most common benign uterine neoplasm, occurs in around one-forth of women during their lifetimes. Leiomyoma is caused by a complex interaction between multiple genes, hormone, growth factor, cytokines, and the environment. Cytochrome P4501A1 (CYP1A1), catechol-O-methyltransferase (COMT) and glutation-stransferase (GSTM1) are key enzymes in the estrogen metabolism pathway that result in the hydroxylation, methylation and conjugation. Estrogen (ESR1) and progesterone (PR) receptors are mediators of hormonal bioeffects. The IGF-II growth factor is known to support myoblasts differentiation among other cell types. P53 is a tumor suppres- sor gene. We evaluated the association between the GSTM1 null-allele, CYP1A1 Ile462Val, COMT Val158Met, ESR1 PvuI and XbaII, p53 Arg72Pro, PR Progins and 3´-untranslated ApaI- IGF2 gene polymorphisms and uterine leiomyoma risk in a case-control study: 200 women with and 200 without uterine leiomyoma living in the Bashkortostan (South Ural region of Russia). The frequency of the low-activity COMT Met/Met genotype was significantly higher in patients than in the healthy control group (44 % and 15%, respectively: x 2 = 29.96, p=0.0005; OR= 4.46, 95% CI 2.51- 7.96). The frequency of AA homozygous (mutant allele) was significantly higher in women with leiomyomas than without (32 % and 16%, respectively: x 2 = 11.0014, p=0.0017; OR=2.32, 95% CI 1.39-3.89). There was no significant difference between the two groups regarding the distribution of the GSTM1, CYP1A1, ESR1, PR and p53 genes polymorphisms frequencies. Our results suggest that the Val158Met polymorphism in COMT gene and the 3´-untranslated ApaI-IGF2 gene polymorphism are associated with increased risk of uterine leiomyoma in Bashkortostan population. P0266. Severe kaposiform hemangioendothelioma associated with Kasabach-Merritt Syndrome - genes need to be identified G. S. Doros 1 , B. S. Zoica 1 , M. Bataneant 1 , M. Serban 1 , M. Gafencu 1 , O. C. Ciocarlie 2 , J. Puiu 1 ; 1 Victor Babes University of Medicine and Pharmacy, Timisoara, Romania, Timisoara, Romania, 2 Louis Turcanu Emergency Hospital for Children, Timisoara, Romania. Background: Vascular anomalies are localized errors of vascular development. Vascular tumors include: hemangioma, kaposiform hemangioendothelioma (KH) and tufted angioma. Genetic studies led to the identification of a number of genes that cause vascular malformations. KH is a rare vascular tumor usually presenting at birth or shortly thereafter. The tumor is locally aggressive and produces major complications. Aim: To present a rare case of severe KH in a 5yo girl, diagnosed at 7 months, unresponsive to medical treatment. She developed major complications: Kassabach-Merritt-Syndrome and CHF. Matherial: At 7 months, the infant was admitted with a large vascular lesion involving the left side of the abdomen, left vulva and left leg. A large, rapidly growing, vascular tumor, warm, non pulsatile, red purple, tense, with significant distortion of anatomy was palpable in the abdomen. Clinical examination, Doppler ultrasound, MRI, biopsy and laboratory tests were performed. Results: KH was the diagnosis. Kassabach-Merritt-Syndrome was the first severe complication, manifested as thrombocytopenia and DIC. Parents refused chemotherapy; hence, treatment was: Prednisone, α- 2a-IFN, blood products. Surgery was considered too dangerous given the size and location of the tumor. Despite all efforts, the tumor became giant, invalidating the child and life-threatening. Conclusions: Kasabach-Merritt-Syndrome and heart failure in unresponsive hemangioendothelioma to medical therapy raise the mortality risk from 30-40% to 50-55%. Gene therapy could be life-saving and despite the rarity of the disease no efforts should be spared to identify the genes involved in KH. In such cases gene therapy could be the only chance for survival. P0267. Reverse-hybridization-based genetic testing for the prediction of anticoagulant dose requirement H. Puehringer 1 , C. Stoellberger 2 , W. Krugluger 3 , C. Oberkanins 1 ; 1 ViennaLab Diagnostics GmbH, Vienna, Austria, 2 Second Medical Department, Rudolfstiftung Hospital, Vienna, Austria, 3 Department of Clinical Chemistry, Rudolfstiftung Hospital, Vienna, Austria. Coumarin derivatives (Warfarin, Phenprocoumon, Acenocoumarol) are the most widespread oral anticoagulant drugs for the prevention and treatment of arterial and venous thromboembolic disorders. However, these vitamin K antagonists have a narrow therapeutic range and a wide inter-individual variability in dose requirement. Despite adjustment for clinical variables, adverse events, such as delay in achieving a stable maintenance dose or bleeding complications, are frequently encountered during the initial phase of therapy. Genetic polymorphisms in the drug-targeted vitamin K epoxide reductase complex 1
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Volume 15 Supplement 1 June 2007 ww
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Table of Contents Spoken Presentati
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Plenary Lectures Plenary Lectures P
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Plenary Lectures labile iron can be
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Concurrent Symposia S07. Vertebrate
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Concurrent Symposia S17. Towards a
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Concurrent Symposia 11 at E13.5 sim
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Concurrent Symposia 1 phomagenesis.
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cover cryptic mutations in Drosophi
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Concurrent Sessions first excluded
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Concurrent Sessions of 210 ancestry
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Concurrent Sessions C23. Literature
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Concurrent Sessions a boy with a ty
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Concurrent Sessions C40. Mutation o
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Concurrent Sessions C48. CHROMSCAN:
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Concurrent Sessions C57. RNAi-based
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Concurrent Sessions been replicated
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Concurrent Sessions involved in an
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Concurrent Sessions tion considers
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Clinical genetics lateral neurosens
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Clinical genetics apparently sporad
Page 43 and 44: Clinical genetics itar syndrome, wh
Page 45 and 46: Clinical genetics diseases, Foundat
Page 47 and 48: Clinical genetics P0041. The first
Page 49 and 50: Clinical genetics EFNB1 was found t
Page 51 and 52: Clinical genetics of the CSB gene.
Page 53 and 54: Clinical genetics growth retardatio
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Page 57 and 58: Clinical genetics pound heterozygou
Page 59 and 60: Clinical genetics plicated: two cou
Page 61 and 62: Clinical genetics P0105. APC gene m
Page 63 and 64: Clinical genetics an indication of
Page 65 and 66: Clinical genetics great importance
Page 67 and 68: Clinical genetics P0133. Hidrotic e
Page 69 and 70: Clinical genetics eight patients as
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Page 89 and 90: Clinical genetics A 29 years old ma
Page 91 and 92: Clinical genetics ing loss (HHL). I
Page 93: Clinical genetics dació Son Llatze
Page 97 and 98: Clinical genetics P0272. Williams S
Page 99 and 100: Cytogenetics Po02. Cytogenetics P02
Page 101 and 102: Cytogenetics to reports from Saudi
Page 103 and 104: Cytogenetics P0298. Female-specific
Page 105 and 106: Cytogenetics P0306. Lipoatrophic pa
Page 107 and 108: Cytogenetics 22 leading to the form
Page 109 and 110: Cytogenetics somal sperm and that o
Page 111 and 112: Cytogenetics University of Belgrade
Page 113 and 114: Cytogenetics Within the same metaph
Page 115 and 116: Cytogenetics Less than 10 cases of
Page 117 and 118: Cytogenetics lar markers taken from
Page 119 and 120: Cytogenetics Brain Unaffected Schiz
Page 121 and 122: Cytogenetics ability with no speech
Page 123 and 124: Cytogenetics P0389. An age based cy
Page 125 and 126: Cytogenetics P0399. Molecular Chara
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Page 133 and 134: Prenatal diagnosis tion about famil
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Page 137 and 138: Prenatal diagnosis in house PCR pro
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Prenatal diagnosis of Turner Syndro
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Cancer genetics ously defined for d
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Cancer genetics Their frequencies w
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Cancer genetics tion Clinic-Portugu
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Cancer genetics tric carcinogenesis
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Cancer genetics P0532. Secondary ch
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Cancer genetics P0542. Differential
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Cancer genetics gastric cancer risk
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Cancer genetics ania, 3 The Institu
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Cancer genetics low: 8% (8/98 sampl
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Cancer genetics P0578. Somatic mito
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Cancer genetics P0587. Differential
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Cancer genetics cinoma (ESCC), whic
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Cancer genetics method to measure t
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Cancer genetics pression (compared
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Cancer genetics to available biolog
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Genomics, technology, bioinformatic
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Therapy for genetic disease Po10. T
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Therapy for genetic disease P1405.
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Therapy for genetic disease exon 7
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Author Index 1 Arslan-Krichner, M.:
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Author Index Borkowska, A.: P1089 B
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Author Index Coviello, D.: P0078, P
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Author Index Estivill, X.: P1216, P
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Author Index Graf, S. A.: P0021 Gra
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Author Index 1 Josifiova, D.: PL07
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Author Index Laurier, V.: C03 Lauri
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Author Index Melo, D. G.: P0260, P0
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Author Index Osorio, P.: P0218 Osta
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Author Index Reese, T.: C06 Regal,
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Author Index 1 Shaposhnikov, S.: P0
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Author Index Touitou, I.: P0733 Tou
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Author Index Xiao, C.: P1241 Xie, G
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Keyword Index ARMR: P0907 array CGH
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Keyword Index Consanguineous marria
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Keyword Index 1 Fronto-temporal dem
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Keyword Index IRF5: P1086 IRF6: P07
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Keyword Index NBS1 gene: P0567 NBS-
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Keyword Index P1085 Rep1: P1104 rep
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Keyword Index vision: P0632 Vitamin
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Notes 1
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A natural choice in Fabry Disease P
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