Normal variation, population genetics, genetic epidemiology samples homozygous for the allele 2 at the rs2555364, homozygous for the allele 1 at the rs1426654 and homozygous for the allele 1 at the rs<strong>16</strong>960620, on the basis of present data could unlikely have African ancestry and show 9% and 91% of possibility to have Asian and Italian ancestry respectively. This analysis also revealed 8 combined unphased genotypes selectively found in Asian populations representing the 17.2% of the total. Haplotype analysis of SLC24A5 improved previous single allele results and can provide significant information about ancestry of unknown samples. Acknowledgements This work was supported by EU FP6 projects NACBO (contract no. NMP4-CT-2004-500804). P1135. Y chromosome analysis in subpopulations of Bashkirs from Russia A. S. Lobov 1 , B. Marina 1 , K. Ildus 1 , K. Rita 1 , K. Irina 1 , R. Siiri 2 , U. Rinat 3 , K. Elza 1 , V. Richard 4 ; 1 Institute of Biochemistry and <strong>Genetics</strong>, Ufa, Russian Federation, 2 Estonian Biocentre, University of Tartu, Tartu, Estonia, 3 3Institute of History Language and Literature, Ufa, Russian Federation, 4 2Estonian Biocentre, University of Tartu, Tartu, Estonia. The Volga-Ural region which is located between Europe and Asia has been the arena of permanent genetic exchanges among Siberian, Central Asian, Eastern <strong>European</strong> populations. We have sampled seven Bashkir subpopulations from different parts of the Volga-Ural region and neighboring areas of Russia: Orenburg (N=79), Perm (N=72), Samara and Saratov (N=51), and from Bashkortostan Republic: Abzelilovskiy (N=152), Sterlibashevskiy (N=54), Baimakskiy (N=95), and Burzaynskiy area (N=82). These samples are currently being analyzed using 24 diallelic markers of Y-chromosome (M89, M9, M20, M48, M73, M130, M170, M172, M175, M201, M207, M214, M217, M231, M253, M269, M306(M173), P15, P37, P43, SRY1532, Tat, 92R7(M74), 12f2). According to our preliminary findings Turkicspeaking Bashkirs are characterized by prevalence of R1b3 and R1a lineages. Among all subpopulations, Perm and Baimakskiy area represent with hight frequency (0.748 0.769,).It indicate there closeness with West <strong>European</strong> populations. Haplogroup R1a have frequency value 0.486 in Samara and Saratov’s Bashkirs and frequency value 0.370 Bashkirs from Sterlibashevskiy area. The N3 characterize for subpopulation Bashkirs from Sterlibashevskiy area (0.537), Orenburg (0.342). Bashkirs from Abzelilovskiy area have main frequency (0.474). These differences possibly indicate that different subpopulations of Bashkirs have different origin. We found that Bashkirs from Perm district were characterized by relatively low genetic diversity, which could be explained by founder effect. Bashkirs from Orenburg region which are anthropologically closer to Ugro-Finnic populations are characterized by high frequency of N3 haplogroup. We will try to compare our results with archeologycal, historycal and anthropological data in discussed about of origin of different groups Bashkir P1136. Studying unanimous role of MCH, MCV and HbA2 blood factors on the affecting possibility to beta thalassemia in south west of Iran. G.H. Mohammadian 1 , H. Galehdari 2 , A.M. Foroughmand 2 , S. Kazemi-Nezhad 2 , M. Oraki 2 , R. Hashemi 3 ; 1 Welfare Organization, Ahwaz, Islamic Republic of Iran, 2 Shahid Chamran University, Ahwaz, Islamic Republic of Iran, 3 Razi University, Kermanshah, Islamic Republic of Iran. Thalassemia disease is the most common human disorder in the world, and controlled by one gene. Thalassemias are group of Hemoglobin(Hb) synthesis disorders. It is basal deficiency is in the reduction of β and α chains synthesis. β thalassemia (βT) as an autosomal recessive disorder increases in familial marriages. Today about 220 different mutations that causes βT have been known this disorder affect the blood indexes of defected people like CBC and Hb electrophoresis factors and cause them to increase or decrease out of normal ranges. Some of the impressed factors are HbA2, MCV and MCH. In βT patients the mount of HbA2 factors are higher and MCV and MCH factors are lower than the limit. Khuzestan state in the south west of Iran close to Persian golf with about 4 million people has the fourth degree in βT prevalence. In this study blood factors of 2000 people (1000 couple) from who referred to the counseling centre and genetic laboratory of welfare organization of Ahwaz were studied. This research had taken place at years of 2003 to 2005. The age of men and women were between 21 to 31 and 17 to 27 respectively and noticeable number of them had abnormal ranges for mentioned factors using statistical and logistic regression method for diagnosis probability of normal and abnormal individuals. Achieved data from normal peoples and liable individuals to βT show the MCV range for Iranian peoples is lower than internationl standard suggestion and it is 77 . P1137. Improved beta-thalassemia genotyping by means of population-specific reverse-hybridization teststrips H. Puehringer 1 , H. Najmabadi 2 , W. Krugluger 3 , H. Y. Law 4 , V. Viprakasit 5 , C. Oberkanins 1 ; 1 ViennaLab Diagnostics GmbH, Vienna, Austria, 2 <strong>Genetics</strong> Research Center, Social Welfare and Rehabilitation Sciences University, Tehran, Islamic Republic of Iran, 3 Department of Clinical Chemistry, Rudolfstiftung Hospital, Vienna, Austria, 4 <strong>Genetics</strong> Service, KK Women’s and Children’s Hospital, Singapore, Singapore, 5 Dept. Paediatrics, Siriraj Hospital, Mahidol University, Bangkok, Thailand. Beta-thalassemia is among the most common inherited diseases throughout the Mediterranean area, parts of Africa, the Middle East, India and Southeast Asia. Mutations in the beta-globin gene may lead to structural abnormalities (e.g. Hb S, Hb E, Hb C) or to haemoglobin imbalance due to the reduced synthesis or complete absence of betaglobin chains. In each at-risk population beta-thalassemia results from a limited number of common mutations and a larger, more variable number of rare mutations. We have improved an existing reverse-hybridization assay (Beta-Globin StripAssay), originally designed for Mediterranean countries, to make it more globally applicable. Three separate teststrips, specific for the most prevalent mutations in Southeast Asia, the Middle East plus India and the Mediterranean region, have been designed. Each teststrip comprises 22 variants and represents an allele coverage of >90% in the respective area. Comprehensive beta-thalassemia genotyping is achieved by a single multiplex DNA amplification reaction and subsequent hybridization to the adequate teststrip. The entire procedure from blood sampling to the identification of mutations requires less than 6 hours, and hybridization/detection may be automated using robotic instrumentation. Proprietary software (StripAssay Evaluator) is available to scan, interpret and electronically archive StripAssay results. The test is simple and convenient, and requires only very small amounts of samples, which is of particular importance for prenatal diagnosis. The broad range of beta-thalassemia mutations covered by the extended StripAssay should make it an attractive and globally useful diagnostic tool. (oberkanins@viennalab.co.at) P1138. Admixture dynamics in Brazilian afro-derived populations revealed by genetic and demographic data A. Luiz Simões 1 , M. Rizzatti Luizon 1 , I. Rainha de Souza 2 , A. L Barbosa 3 , K. Abé-Sandes 4 , S. Sousa 3 ; 1 Departamento de Genética, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brazil, 2 Departamento de Biologia Celular, Embriologia e Genética, Universidade Federal de Santa Catarina, Florianópolis, Brazil, 3 Departamento de Ciências Biológicas, Universidade Estadual do Sudoeste da Bahia, Jequié, Brazil, 4 Departamento de Ciências da Vida, Universidade do Estado da Bahia, Salvador, Brazil. Brazilian remnant quilombo populations (Afro-derived) have heterogeneous origins depending on their region and founding groups. The Northeast semi-isolated communities of Barra (BR) and São Gonçalo (SG) exhibit reduced migration rates and high frequency of consanguineous marriages. The Southern isolated community of Valongo (VAL), formed by only seven black and one white individual, exhibit a high degree of intermarriage and a very low migration rate. Four AIMs (Ancestry Informative Markers; AT3-indel, Sb<strong>19</strong>.3-Alu, APO-Alu and PV92-Alu) and the allele CYP1A1*2C were used to investigate the histories of formation of BR (n=39), SG (n=28) and VAL (n=29). We have also examined the urban population samples of Jequié (n=44) and Florianópolis (n=31), and indigenous tribes from Brazilian Amazon (n=300). Genotyping was performed by PCR, PCR-RFLP, PAGE 6% and silver staining. Statistical analysis were performed by GENEPOP, GDA and ADMIX. CYP1A1*2C was observed in Brazilian amerindians (95%), europeans (2,8-5,8%) and africans (1,3%). Associations between unlinked markers (p
Normal variation, population genetics, genetic epidemiology SG (African/<strong>European</strong>=79%/21%, R2=0.983) and BR (68%/32%, R2=0.989). These results are not in agreement to demographic history and previous studies showing tri-hybrid admixture, which may be explained by the different nature of markers analyzed. On the other hand, those associations were not observed in VAL, probably due to its isolation and no recent admixture. The coefficient of local inbreeding (Fis=- 0,136, p C promoter polymorphism have lower promoter activity and result in decreased COX-2 expression. Also, it is reported that this type of polymorphism may have important role in increased risk of several types of cancers. In addition, genetic polymorphisms of COX-2 gene could alter enzyme expression and the response to Nonsteroidal anti-inflammatory drugs (NSAIDs). In this investigation, we assessed allele frequency of COX-2 polymorphism among different Iranian populations. The genetic polymorphisms of COX-2 -765G > C promoter has not been reported among the Iranian population so far. We initiated a study to examine COX-2 -765G > C promoter genotype in different Iranian ethnic groups. The samples were collected from healthy population from three different ethnicity groups (Fars, Turk and Rashti). We assessed the genotype patterns of COX-2 among Iranian Fars, Turk and Rashti ethnic groups in five regions. The COX-2 -765G > C promoter genotypes were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) analysis in 90 Iranian healthy individuals. Allele frequency of COX-2 -765G > C promoter for above populations were similar and the G allele was significantly higher than C allele. P1143. Genetic polymorphisms associated with cardiovascular disease in the Azorean population P. A. S. Sousa1 , A. R. Couto1 , S. Nemeth2 , J. P. O. Pinheiro1 , C. Oberkanins2 , J. Bruges-Armas1 ; 1 2 SEEBMO, Angra do Heroísmo, Portugal, ViennaLab Diagnostics GmbH, Vienna, Austria. Background: Research on cardiovascular disease (CVD) has revealed several candidate genes associated with the worlds first cause of dis- 2
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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
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Clinical genetics itar syndrome, wh
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Clinical genetics diseases, Foundat
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Clinical genetics P0041. The first
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Clinical genetics EFNB1 was found t
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Clinical genetics of the CSB gene.
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Clinical genetics growth retardatio
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Clinical genetics PCR with a modifi
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Clinical genetics pound heterozygou
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Clinical genetics plicated: two cou
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Clinical genetics P0105. APC gene m
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Clinical genetics an indication of
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Clinical genetics great importance
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Clinical genetics P0133. Hidrotic e
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Clinical genetics eight patients as
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Clinical genetics P0152. Kabuki syn
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Clinical genetics P0161. Intrafamil
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Clinical genetics matter and normal
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Clinical genetics type at 550 bands
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Clinical genetics will be confirmed
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Clinical genetics nosed. Accurate r
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Clinical genetics which has not bee
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Clinical genetics P0217. Partial mo
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Clinical genetics fested progeroid
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Clinical genetics A 29 years old ma
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Clinical genetics ing loss (HHL). I
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Clinical genetics dació Son Llatze
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Clinical genetics These preliminary
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Clinical genetics P0272. Williams S
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Cytogenetics Po02. Cytogenetics P02
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Cytogenetics to reports from Saudi
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Cytogenetics P0298. Female-specific
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Cytogenetics P0306. Lipoatrophic pa
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Cytogenetics 22 leading to the form
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Cytogenetics somal sperm and that o
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Cytogenetics University of Belgrade
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Cytogenetics Within the same metaph
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Cytogenetics Less than 10 cases of
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Cytogenetics lar markers taken from
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Cytogenetics Brain Unaffected Schiz
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Cytogenetics ability with no speech
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Cytogenetics P0389. An age based cy
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Cytogenetics P0399. Molecular Chara
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Cytogenetics ing of complex examina
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Cytogenetics letion in 5q33 in all
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Cytogenetics and his son carried th
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Prenatal diagnosis tion about famil
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Prenatal diagnosis P0443. The risk
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Prenatal diagnosis in house PCR pro
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Prenatal diagnosis P0462. Increased
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Prenatal diagnosis P0471. Preimplan
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Prenatal diagnosis agreement with w
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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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Molecular and biochemical basis of
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Molecular and biochemical basis of
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Molecular and biochemical basis of
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Molecular and biochemical basis of
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Molecular and biochemical basis of
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Genetic analysis, linkage, and asso
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Genetic counselling, education, gen
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Genetic counselling, education, gen
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Genetic counselling, education, gen
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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