Article
[Analysis of gene mutation in a family featuring autosomal dominant May-Hegglin anomaly].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2013
Feng Yapei, Guo Xiaofan, Li Lin, Li Jiangxia, Liu Zhonglu, Zhu Xiaoyan, Liu Qiji
Abstract excerpt
OBJECTIVE: To analyze clinical features and mutation in MYH9 gene for a family featuring autosomal dominant May-Hegglin anomaly. METHODS: Clinical and pathological features of all family members were analyzed. Blood samples were collected from the proband and other family members, and genomic DNA was extracted. Potential mutations of MYH9 gene exons 10, 25, 26, 30, 38 and 40 were screened with PCR and direct...
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