Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2gene associated with osteogenesis imperfecta

Autor: Jia, Mingrui, Shi, Ranran, Zhao, Xuli, Fu, Zhijian, Bai, Zhijing, Sun, Tao, Zhao, Xuejun, Wang, Wenbo, Xu, Chao, Yan, Fang, Marginean., Cristina Oana
Zdroj: Medicine; September 2017, Vol. 96 Issue: 39 pe7783-e7783, 1p
Databáze: Supplemental Index