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A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family

โœ Scribed by Hao Peng; Yuhui Zhang; Zhigao Long; Ding Zhao; Zhenxin Guo; Jinjie Xue; Zhiguo Xie; Zhimin Xiong; Xiaojuan Xu; Wei Su; Bing Wang; Kun Xia; Zhengmao Hu

Book ID
116508859
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
545 KB
Volume
502
Category
Article
ISSN
0378-1119

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Osteogenesis imperfecta (OI) is a heritable disease of bone characterized by low bone mass and bone fragility. Six different types of OI have been described to date, based on clinical phenotype and histological findings. The genetic defect in many patients with OI types I-IV is due to mutations in t

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Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders characterized by increased bone fragility, with clinical severity ranging from mild to lethal. To date, seven types of OI have been described, based on clinical phenotype and histological findings. Most patients with a clin