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A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family

โœ Scribed by Xin-Yi Xia; Ying-Xia Cui; Yu-Feng Huang; Lian-Jun Pan; Bin Yang; Hao-Yang Wang; Xiao-Jun Li; Yi-Chao Shi; Hong-Yong Lu; Yu-Chun Zhou

Book ID
116348037
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
239 KB
Volume
398
Category
Article
ISSN
0009-8981

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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