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 and the others were heterozygous for this mutation. The frequency of this mutation was 30%. CONCLUSION: The codon...
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