Article
[Identification of a mutation hotspot in exon 8 of Wilson's disease gene by cycle sequencing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 1998
Xu Y, Fan Y, Yu L, Jiang Y, Yang R, Han Y, Cui Y, Ren M, Zhao S
Abstract excerpt
OBJECTIVE: To screen for mutation hotspot of Wilson's disease (WD) gene in Chinese. METHODS: Cycle sequencing was used to detect mutation in exon 8 of WD gene in 30 patients with WD. RESULTS: The same missense mutation, Arg778Leu, was identified in 14 WD patients, four of which were homozygous an...
Topics
- Adolescent
- Adult
- Child
- Exons
- Female
- Hepatolenticular Degeneration
- Humans
- Male
- Mutation