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COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

BACKGROUND: Osteogenesis imperfecta (OI), a genetically determined connective tissue disorder, is characterized by increased bone fragility and reduced bone mass. Clinical presentation severity ranges from very mild types with nearly no fractures to intrauterine fractures and perinatal lethality. It...

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Detalles Bibliográficos
Autores principales:	Wang, Mingyuan, Guo, Yi, Rong, Pengfei, Xu, Hongbo, Gong, Lina, Deng, Hao, Yuan, Lamei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503011/ https://www.ncbi.nlm.nih.gov/pubmed/30829463 http://dx.doi.org/10.1002/mgg3.619

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