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[Gene mutation analysis of a Chinese family with osteogenesis imperfecta].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2006

Wang Zhuo, Xu Dong-liang, Hu Jun-yong, Liao Yue-hua, Yang Zheng, Liang Qiong, Wang Lian-tang

Abstract excerpt

OBJECTIVE: To study the gene mutation of collagen, type I, alpha 1 (COL1A1) associated with the clinical characterization of a Chinese family with type I osteogenesis imperfecta (OI). METHODS: Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to check all the members in the family with OI and 50 normal control people for detecting the mutation of COL1A1 gene. RESULTS: A...

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PMID: 16604495

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