Article
Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.
Clinical endocrinology - 1 Apr 2014
Lu Yanqin, Ren Xiuzhi, Wang Yanzhou, Li Tianyou, Li Fuhui, Wang Shifu, Xu Chao, Wu Guohua, Li Hu, Li Gongchao, Zhao Fei, Wang Ziqiang, Mo Xinkai, Han Jinxiang
Abstract excerpt
OBJECTIVE: Osteogenesis imperfecta (OI) with C-propeptide mutations in proα1(I) collagen gene are rarely reported. We report four novel C-propeptide mutations in COL1A1 gene from Chinese OI patients. METHODS: Clinical characteristics and radiographic findings were described for four OI patients with C-propeptide mutations in proα1(I) collagen gene. Mutations were identified by traditional DNA sequencing based on...
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