Article
[Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2013
Gu Yong, Shao Minhua, Du Xufeng, Li Ming, Shi Hejian, Zhang Guolong
Abstract excerpt
OBJECTIVE: To detect FLG gene mutations in 10 families affected with ichthyosis vulgaris and to explore mutational hot spot of the FLG gene in Chinese Han population. METHODS: PCR and direct sequencing were carried out to identify potential mutations of the FLG gene in above families. One hundred healthy individuals were analyzed as normal controls. RESULTS: Three mutations (3321delA, 5757delCCAG and S2706X) were...
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