COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I

ConclusionThe sequence variant may be a disease ‐causing factor resulting in abnormal type I procollagen synthesis and leading to OI type I. This finding has significant implications for genetic counseling and clinical monitoring of high‐risk families and may be helpful for understanding pathogenic mechanism of OI and developing therapies.

Source: Molecular Genetics & Genomic Medicine - March 3, 2019 Category: Genetics & Stem Cells Authors: Mingyuan Wang, Yi Guo, Pengfei Rong, Hongbo Xu, Lina Gong, Hao Deng, Lamei Yuan Tags: ORIGINAL ARTICLE Source Type: research