| 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 |
Related Documents
:
|
23382873 - Molecular genetics and functional anomalies in a series of 248 brugada cases with 11 mu... 12409273 - Novel missense mutation (y24h) in the g6pt1 gene causing glycogen storage disease type 1b. 18678263 - Pleistocene separation of mitochondrial lineages of mytilus spp. mussels from northern ... |
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. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Pretreatment of cromolyn sodium prior to reperfusion attenuates early reperfusion injury after the s...
Next Document: Upper gastrointestinal bleeding from duodenal vascular ectasia in a patient with cirrhosis.