Mutation analysis of 73 southern Chinese Wilson's disease patients: Identification of 10 novel mutations and its clinical correlation

Journal of Human Genetics

Volumn 56, Issue 9, 2011, Pages 660-665

  Wang, Li Hua ^a   Huang, Ye Qing ^b   Shang, Xuan ^a   Su, Quan Xi ^b   Xiong, Fu ^a   Yu, Qing Yun ^b   Lin, Hui Ping ^a   Wei, Zhi Sheng ^b   Hong, Ming Fan ^a,b   Xu, Xiang Min ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b GUANGDONG PHARMACEUTICAL UNIVERSITY   (China)

Author keywords

ATP7B; genotype; novel mutation; phenotype; southern Chinese; Wilson disease

Indexed keywords

WILSON DISEASE PROTEIN;

ALLELE; ARTICLE; CHINESE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; SPLICE SITE MUTATION; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CATION TRANSPORT PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 80053292685     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.76     Document Type: Article

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