Article
[A novel KIT gene mutation from a family with piebaldism in the southern part of China].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2005
Deng Wei-ping, Huang Yue-shen, Lu Chun, Lan Wei, Zhu Guo-xing, Lin Qun-di, Feng Pei-ying
Abstract excerpt
OBJECTIVE: To detect the gene mutation of a family with piebaldism. METHODS: Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing. RESULTS: G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in...
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