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A novel missense mutation in P4HB causes mild osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a rare heritable bone disorder characterized by low bone mineral density (BMD), recurrent bone fractures, and progressive bone deformities. P4HB encodes protein disulfide isomerase (PDI) and is identified as a novel candidate gene of OI. The purposes of the present st...

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Detalles Bibliográficos
Autores principales:	Li, Lujiao, Zhao, Dichen, Zheng, Wenbin, Wang, Ou, Jiang, Yan, Xia, Weibo, Xing, Xiaoping, Li, Mei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2019
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499448/ https://www.ncbi.nlm.nih.gov/pubmed/30948499 http://dx.doi.org/10.1042/BSR20182118

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