[Clinical application of chromosome haplotype analysis and mutation analysis to the diagnosis of Wilson's disease].

Article

[Clinical application of chromosome haplotype analysis and mutation analysis to the diagnosis of Wilson's disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 1999

Shi X, Ling Q, Xia J, Wu H

Abstract excerpt

OBJECTIVE: To set up the method of gene diagnosis of Wilson's disease (WD) by chromosome haplotype analysis and mutation detection. METHODS: This study selected 3 (CA)n repeat genetic markers,D13S316, D13S133 and D13S314 to construct the chromosome haplotype within 8 Han WD families. PCR-SSCP was...

Topics

Genetic Markers
Haplotypes
Hepatolenticular Degeneration
Humans
Mutation

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