Article
[Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2015
Li Yan, Xin Qian, Shan Shan, Li Jiangxia, Liu Qiji
Abstract excerpt
OBJECTIVE: To detect potential mutation in a Chinese family affected with autosomal-dominant synpolydactyly and to provide the basis for prenatal diagnosis. METHODS: Inheritance pattern was determined by clinical examination and pedigree analysis. Blood samples were obtained from members of the family. Genomic DNA was extracted and sequenced following PCR amplification. Suspected mutation was confirmed by...
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