A novel mutation in CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the βB1/βA3-crystallin heteromer but not the βB1-crystallin homomer
Kai Jie Wang; Sha Wang; Ni-Qian Cao; Yong-Bin Yan; Si Quan Zhu
- 作者Kai Jie Wang; Sha Wang; Ni-Qian Cao; Yong-Bin Yan; Si Quan Zhu
- 卷第32卷
- 期第3期
- 印刷ISSN1059-7794
- 电子ISSN1098-1004
- 文件大小647.07KB
- 发表时间2011
- DOI10.1002/humu.21436