The IFITM5 Mutation C.-14C > T Results in an Elongated Transcript Expressed in Human Bone; and Causes Varying Phenotypic Severity of Osteogenesis Imperfecta Type V

Syndia Lazarus,Aideen M McInerney-Leo,Fiona A McKenzie,Gareth Baynam,Stephanie Broley,Barbra V Cavan,Craig F Munns,Johannes Egbertus Hans Pruijs,David Sillence,Paulien A Terhal,Karena Pryce,Matthew A Brown,Andreas Zankl,Gethin Thomas,Emma L Duncan

BMC Musculoskeletal Disorders（2014）

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关键词

Osteogenesis imperfecta,Interferon-induced transmembrane protein 5 (IFITM5),Bone-restricted interferon-induced transmembrane protein-like protein (BRIL),Hyperplastic callus,Radial head dislocation

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