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

2008 ◽  
Vol 398 (1-2) ◽  
pp. 148-151 ◽  
Author(s):  
Xin-Yi Xia ◽  
Ying-Xia Cui ◽  
Yu-Feng Huang ◽  
Lian-Jun Pan ◽  
Bin Yang ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Rna Splicing ◽  
Chinese Family ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Splicing Mutation ◽  
Col1a1 Gene ◽  
Osteogenesis Imperfecta Type I

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

2019 ◽  
Vol 7 (5) ◽  
pp. e619 ◽  
Author(s):  
Mingyuan Wang ◽  
Yi Guo ◽  
Pengfei Rong ◽  
Hongbo Xu ◽  
Lina Gong ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Han Chinese ◽  
Chinese Family ◽  
Type I ◽  
Osteogenesis Imperfecta Type ◽  
Osteogenesis Imperfecta Type I

A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family

Gene ◽  
2012 ◽  
Vol 502 (2) ◽  
pp. 168-171 ◽  
Author(s):  
Hao Peng ◽  
Yuhui Zhang ◽  
Zhigao Long ◽  
Ding Zhao ◽  
Zhenxin Guo ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Chinese Family ◽  
Type I ◽  
Splicing Mutation ◽  
Col1a1 Gene
Sign in / Sign up

Export Citation Format

Share Document