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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499448/
https://www.ncbi.nlm.nih.gov/pubmed/30948499
http://dx.doi.org/10.1042/BSR20182118

Ejemplares similares