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Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta

Mutation analysis as the gold standard is particularly important in diagnosis of osteogenesis imperfecta (OI) and it may be preventable upon early diagnosis. In this study, we aimed to analyze the clinical and genetic materials of an OI pedigree as well as to confirm the deleterious property of the...

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Detalles Bibliográficos
Autores principales:	Jia, Mingrui, Shi, Ranran, Zhao, Xuli, Fu, Zhijian, Bai, Zhijing, Sun, Tao, Zhao, Xuejun, Wang, Wenbo, Xu, Chao, Yan, Fang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2017
Materias:	6200
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5626253/ https://www.ncbi.nlm.nih.gov/pubmed/28953610 http://dx.doi.org/10.1097/MD.0000000000007783

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