Article
[Identification of a novel KIT mutation in a Chinese family affected with piebaldism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2016
Wang Rongrong, Shu Shi, Zhang Yi, Luo Wei, Zhang Xue
Abstract excerpt
OBJECTIVE: To identify the pathogenic mutation underlying piebaldism in a Chinese family. METHODS: A three-generation family showing an autosomal dominant transmission of piebaldism was recruited. Potential mutations of the KIT and SNAI2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing. RESULTS: A heterozygous missense mutation, c.2585T>C, was identified in...
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