A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family

Autor: Xia, Xin-Yi 1, Cui, Ying-Xia ⁎, 1, Huang, Yu-Feng 1, Pan, Lian-Jun, Yang, Bin, Wang, Hao-Yang, Li, Xiao-Jun, Shi, Yi-Chao, Lu, Hong-Yong, Zhou, Yu-Chun
Zdroj: In Clinica Chimica Acta 2008 398(1):148-151
Databáze: ScienceDirect
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