2009 Vienna - European Society of Human Genetics

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Complex traits and polygenic disorders P09.002 the role of Y chromosome in male susceptibility to ADHD and schizophrenia E. Stergiakouli, H. Williams, K. Langley, A. Thapar, M. Owen; Cardiff University, Cardiff, United Kingdom. Many psychiatric disorders display distinct sex differences. Men are more likely to be affected by neurodevelopmental disorders, such as attention deficit hyperactivity disorder (ADHD) and schizophrenia. ADHD is a childhood disorder characterised by inattention, overactivity and impulsiveness. The disorder affects males more than females at a ratio of 4:1. In schizophrenia, the age of onset in men is significantly earlier (21 years) than for women (25 years). The disorder is more severe in male patients and they generally have more negative symptoms. To elucidate the genetic causes of sex differences we choose to study the Y chromosome. Y chromosome variants appropriate for U.K. populations were genotyped in a sample of 210 cases with ADHD, 310 cases with schizophrenia and 700 U.K. controls. Although our casecontrol study did not reveal any association of Y chromosome haplogroups with either ADHD or schizophrenia, a modifying effect of Y chromosome on ADHD was shown. Scores of performance IQ and full scale IQ were found to be increasing as Y chromosome haplogroups became more recent evolutionary. Performance IQ (p=0.014) Haplogroups (from most ancient to most recent evolutionary) N Mean 1 59 87.3 2 108 91.1 3 35 95 Full Scale IQ (p=0.024) Haplogroups (from most ancient to most recent evolutionary) N Mean 1 59 86.2 2 108 89.3 3 35 92.6 To sum up, Y chromosome haplogroups might not have a main effect on ADHD or schizophrenia but they have a modifying effect on ADHD since more ancient haplogroups are associated with lower performance IQ. Moreover, our results on 1220 individuals provide an insight into the population structure of U.K. Y chromosome haplogroups. P09.003 Genetic variation within adiponutrin is associated with lipoprotein metabolism and liver function B. Kollerits 1 , S. Coassin 1 , S. Kiechl 2 , S. C. Hunt 3 , A. Döring 4 , C. Lamina 1,4 , B. Paulweber 5 , I. M. Heid 4,6 , J. Willeit 2 , A. Brandstätter 1 , T. D. Adams 3 , F. Kronenberg 1 ; 1 Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria, 2 Department of Neurology, Innsbruck Medical University, Innsbruck, Austria, 3 Cardiovascular Genetics Division, University of Utah School of Medicine, Salt Lake City, UT, United States, 4 Helmholtz Zentrum München, Neuherberg, Germany, 5 First Department of Internal Medicine, St. Johann Spital, Paracelsus Private Medical University Salzburg, Salzburg, Austria, 6 Institute of Information Management, Biometry and Epidemiology, Ludwig-Maximilians-University of Munich, Munich, Germany. Objective. Adiponutrin (PNPLA3) is a predominantly liver-expressed transmembrane protein with phospholipase activity regulated by fasting and feeding. Recent genome-wide association studies identified adiponutrin to be associated with hepatic fat content and liver function, indicating that adiponutrin might be involved in hepatic lipoprotein metabolism. We aimed 1) to elucidate the association of common variants within adiponutrin and parameters of lipoprotein metabolism and 2) with liver function in up to four independent West-Eurasian study populations including up to more than 6000 individuals. Methods. This study is based on the population-based Bruneck Study (n=800), the population-based KORA F3 Study (n=1644), the SAPHIR Study (n=1738) from Austria based on a healthy working population, and the Utah Obesity Case-Control Study (including 1037 severely obese individuals (average BMI 46.0 kg/m 2 ) and 827 controls from the same geographical region). Results. We observed a strong recessive association of a common nonsynonymous variant within adiponutrin (rs738409, exon 3) with age- and gender-adjusted lipoprotein concentrations which was not caused by an impaired liver function: homozygote carriers of the mi- nor allele had on average 8.75 mg/dL lower total cholesterol levels (p=0.00006), 7.79 mg/dL lower non-HDL cholesterol levels (p=0.0004), 4.91 mg/dL lower LDL cholesterol levels (p=0.007) and 9.01 mg/dL lower triglyceride levels (p=0.006). Moreover, the rs738409 variant is strongly associated with the liver enzymes ALT and AST, following a recessive model.Discussion. In conclusion, our study suggests that adiponutrin is related to processes of lipid and energy metabolism with a special focus on apolipoprotein B-containing lipoproteins, as well as hepatic dysfunction. P09.004 Dystrobrevin binding protein 1 gene (DTNBP ) and bipolar disorder: the results of a meta-analysis D. Gaysina 1,2 , G. Breen 2 , I. Pedroso 2,3 , P. McGuffin 2 ; 1 MRC Unit for Lifelong Health and Ageing, London, United Kingdom, 2 MRC SGDP Centre, Institute of Psychiatry, London, United Kingdom, 3 NIHR Biomedical Research Centre for Mental Health, South London and Maudsley NHS Trust, London, United Kingdom. Recent studies suggest an overlap in genetic susceptibility of schizophrenia and bipolar disorder (BD). There is some evidence for association between the DTNBP1 gene with schizophrenia and to date there have been five association studies of DTNBP1 and BD published: Raybould et al (2005), Breen et al (2006), Joo et al (2007), Pae et al (2007), and Gaysina et al (2008). The main limitations of these studies are an impossible direct comparison of risk alleles/haplotypes due to different marker sets used and their insufficient sample size. To deal with these problems we imputed the genotypes for Hapmap SNPs for samples used in studies by Breen et al. (2006) and Gaysina et al. (2008). Accuracy over 90% of imputed data makes them appropriate for analyses of genotypes and alleles, but not haplotypes. If the data were available from three or more studies we performed a meta-analysis of DTNBP1 alleles combining odds ratios and using a fixed-effect model. Seven SNPs were available for the meta-analyses: rs2619538, rs2619522, rs760761, rs2005976, rs1011313, rs3213207 and rs2619539. Our results support the association of rs760761 (T allele: P (Z)=0.012, OR=1.22, 95%CI 1.04-1.42) and rs3213207 (G allele: P (Z) =0.013, OR=1.24, 95%CI 1.05-1.46) of the DTNBP1 gene in vulnerability to BD. We are currently running meta-analyses based on Bayesian method which allows combining data of genetic association studies with different sets of markers (Verzilli et al, 2008). The data will be presented during the conference. P09.005 DNA-variants of the properdin gene are not associated with AmD S. Seitsonen 1 , S. Torniainen 2 , M. Ihalainen 2 , P. Onkamo 3 , S. Meri 4 , I. Immonen 1 , I. Jarvela 2 ; 1 Helsinki University Central Hospital, Helsinki, Finland, 2 Department of Medical Genetics, University of Helsinki, Helsinki, Finland, 3 Department of Biological and Environmental Sciences, University of Helsinki, Helsinki, Finland, 4 Department of Bacteriology and Immunology, University of Helsinki, Helsinki, Finland. Purpose. Several variants in the complement cascade genes (complement factor H [CFH], C2, C3, CFB) have been reported to associate with age-related macular degeneration (AMD). Of them, a member of the complement alternative pathway, CFH, represents the highest risk. Since properdin is also an important protein in this pathway, we analysed whether DNA-variants in the properdin gene at Xp11.4 are associated with AMD. Methods. The coding region and splice sites of the properdin gene were sequenced in a total of 223 Finnish patients with AMD (151 sporadic cases [68% women] and 72 familial cases [71% women]). Controls were 86 age-matched non-AMD patients (81% women) with no large drusen and no or minimal focal pigmentary abnormalities. Results. A total of four single nucleotide polymorphisms (SNP) were detected in the properdin gene. Three of the SNPs ( D55H in exon 3, D299N in exon 7 and P394S in exon 9) were infrequent (in 5 patients and controls in total). The fourth SNP, rs1048118 in exon 10, was more frequent, but was not associated with AMD either in men or in women in our preliminary analyses. Conclusions. None of the variant in the properdin gene was associated with AMD, suggesting that properdin, though a member of alternative pathway, does not play as important role as CFH in the pathogenesis of AMD.
Complex traits and polygenic disorders P09.006 Association of ADH genes variation with alcoholism risk in three populations from Russia G. G. Faskhutdinova, A. Kazantseva, E. Khusnutdinova; Institute of Biochemistry and Genetics, Ufa, Russian Federation. Alcoholism (alcohol dependence) is a common, complex disease, with significant genetic contribution to the risk. Alcohol is primarily degraded by alcohol dehydrogenase (ADH) and genetic variations affecting the rate of alcohol degradation were found in ADH genes. We designed a classical case-control association study for 5 polymorphisms in Class 1 ADH genes: ADH1B Arg47His (rs1229984), ADH1B RsaI (rs2066701), ADH1C HaeIII (rs1693425), ADH1C EcoRI (rs1789920), and ADH1C Ile349Val (rs698). We recruited 303 men with ICD-10 alcoholism diagnosis (112 Russians, 91 Tatars, 100 Bashkirs from Volga-Ural region of Russia) and matched control groups typed for the above-mentioned gene variants using PCR-RFLP technique. We observed all SNPs to be in strong linkage disequilibrium in controls, cases and the overall sample in all studied populations. Haplotype analysis of 2 SNPs in ADH1B gene showed significant association of ADH1B*Arg*T haplotype with alcoholism (p
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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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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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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 205 and 206: Cancer genetics P06.155 New roles f
Page 207 and 208: Cancer genetics screening was perfo
Page 209 and 210: Cancer genetics val (DFI) than pati
Page 211 and 212: Cancer genetics is hTERC gene ampli
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Page 217 and 218: Cancer cytogenetics mutations in co
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Page 221 and 222: Statistical genetics, includes Mapp
Page 235: Complex traits and polygenic disord
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Page 267 and 268: 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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