A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta typeⅠin a Chinese family
- VernacularTitle:成骨不全家系Ⅰ型胶原COL1A1基因一个新RNA剪接突变位点的发现
- Author:
Xinyi XIA
;
Yingxia CUI
;
Bin YANG
;
Haoyang WANG
;
Hongyong LU
;
Bing YAO
;
Xiaojun LI
;
Yufeng HUANG
- Publication Type:Journal Article
- Keywords:
Osteogenesis imperfecta;
TypeⅠcollagen;
Gene mutation
- From:
Journal of Medical Postgraduates
2003;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
A) in COL1A1 gene resulting in OI in a Chinese family. The detailed molecular and clinical features will be useful for extending the evidence for genetic and phenotypic heterogeneity in OI and exploring the phenotype-genotype correlations in OI.
