Article
[Analysis of TSC gene mutations in five patients with tuberous sclerosis complex].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2017
Liu Linli, Zhang Zhengzhong, Mu Yunzhu, Xiong Fen, Yang Hao, Yang Ping, Liu Yiping, Chen Xing, Sui Weichi
Abstract excerpt
OBJECTIVE: To identify pathogenic mutations of TSC1 and TSC2 genes in two familial and one sporadic cases with tuberous sclerosis complex (TSC). METHODS: For five patients and their family members, potential mutations of the TSC1 and TSC2 genes were detected by direct sequencing. RESULTS: For one family, a novel missense mutation c.1964C>T (p.S655F) was detected in the exon 19 of the TSC2 gene. For the sporadic...
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