Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX

Autor: Jiang, Yu, Pan, Jingxin, Guo, Dongwei, Zhang, Wei, Xie, Jie, Fang, Zishui, Guo, Chunmiao, Fang, Qun, Jiang, Weiying, Guo, Yibin
Zdroj: In Clinica Chimica Acta June 2017 469:111-118
Databáze: ScienceDirect