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
✦ 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
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