𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A deletion mutation in the βA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

✍ Scribed by Yanhua Qi; Hongyan Jia; Shangzhi Huang; Hui Lin; Jingzhi Gu; Hong Su; Tieying Zhang; Ya Gao; Lijun Qu; Dandan Li; Ying Li


Publisher
Springer
Year
2004
Tongue
English
Weight
213 KB
Volume
114
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A novel GJA3 mutation associated with co
✍ Ke Yao; Wei Wang; Yanan Zhu; Chongfei Jin; Xingchao Shentu; Jin Jiang; Yidong Zh 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 295 KB

Congenital cataract (CC) is the leading cause of visual disability in children. To date, mutations in many genes have been linked to CC. In a four-generation Chinese family with congenital nuclear pulverulent and posterior polar cataracts, we detected a heterozygous c.5G>A transition in the second e

A novel mutation in CRYBB1 associated wi
✍ Kai Jie Wang; Sha Wang; Ni-Qian Cao; Yong-Bin Yan; Si Quan Zhu 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 647 KB

Congenital cataract-microcornea syndrome (CCMC) is a clinically and genetically heterogeneous condition characterized by lens opacities and microcornea. It appears as a distinct phenotype of heritable congenital cataract. Here we report a large Chinese family with autosomal dominant congenital catar