Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 277-285

  Vrabelova, Slavka ^a   Letocha, Ondrej ^a   Borsky, Marek ^a   Kozak, Libor ^a  

^a UNIVERSITY HOSPITAL BRNO   (Czech Republic)

Author keywords

Allele frequency; ATP7B; Genotype phenotype correlations; Mutation analysis; Slavic population; Wilson disease

Indexed keywords

WILSON DISEASE PROTEIN;

ALLELE; ARTICLE; ATP7B GENE; CAUCASIAN; CONTROLLED STUDY; CZECH REPUBLIC; DENATURING GRADIENT GEL ELECTROPHORESIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EUROPE; FEMALE; GEL ELECTROPHORESIS; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SLOVAKIA; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; BASE SEQUENCE; CATION TRANSPORT PROTEINS; DNA PRIMERS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 26244434931     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.05.004     Document Type: Article

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