Article
[Mutation and polymorphism in exon 4 of tuberous sclerosis complex gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2001
Fang L, Wu Z, Wang N, Lin M, Murong S
Abstract excerpt
OBJECTIVE: To study the characteristic of mutation and polymorphism in exon 4 of tuberous sclerosis complex gene(TSC1) in Chinese. METHODS: Twenty-five TSC patients and 23 parents from 21 families were enrolled. The mutation of exon 4 in these subjects was identified by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and further confirmed by direct sequencing. RESULTS: The normal...
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