Document Detail


Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients.
MedLine Citation:
PMID:  17876883     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AIM: To study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics. METHODS: Mutations of the ATP7B gene were sought by means of direct sequencing in 50 Eastern Chinese WD patients of Han ethnic origin. RESULTS: Two novel mutations, Asp96Gly and Asp196Glu, were first identified. We also compared the characterization of mutations in ATP7B with the clinical findings, and a significant correlation with hepatic manifestations between patients carrying the Arg778Leu mutation and those without was found. CONCLUSION: Gene sequencing analysis was shown to have a high detection rate and accuracy. It may become the first priority in screening of WD patients.
Authors:
Sheng Ye; Liang Gong; Quan-Xiang Shui; Lin-Fu Zhou
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  World journal of gastroenterology : WJG     Volume:  13     ISSN:  1007-9327     ISO Abbreviation:  World J. Gastroenterol.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-09-18     Completed Date:  2007-11-28     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  100883448     Medline TA:  World J Gastroenterol     Country:  China    
Other Details:
Languages:  eng     Pagination:  5147-50     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Child Hospital, Zhejiang University, Hangzhou 310005, Zhejiang Province, China.
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MeSH Terms
Descriptor/Qualifier:
Adenosine Triphosphatases / genetics*
Adolescent
Asian Continental Ancestry Group / ethnology,  genetics
Case-Control Studies
Cation Transport Proteins / genetics*
Child
Child, Preschool
China
Female
Genetic Predisposition to Disease / ethnology,  genetics
Genetic Testing / methods
Genotype
Hepatolenticular Degeneration / ethnology*,  genetics*,  pathology
Humans
Liver / pathology
Male
Mutation / genetics*
Phenotype
Sequence Analysis, DNA
Chemical
Reg. No./Substance:
0/Cation Transport Proteins; EC 3.6.1.-/Adenosine Triphosphatases; EC 3.6.3.4/Wilson disease protein

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