Article
[Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016
Zhang Qiguo, Yang Yao, Cai Liangqi, Huang Yijin, Duan Yan, Liang Yanhua
Abstract excerpt
OBJECTIVE: To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris. METHODS: All coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls. RESULTS: Two novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T...
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