✦ LIBER ✦

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

✍ Scribed by V. Berry; D. Mackay; S. Khaliq; P.J. Francis; A. Hameed; K. Anwar; S. Qasim Mehdi; R.J. Newbold; A. Ionides; A. Shiels; T. Moore; S.S. Bhattacharya

Book ID: 106137267
Publisher: Springer
Year: 1999
Tongue: English
Weight: 115 KB
Volume: 105
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390051082

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel GJA3 mutation associated with co

A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a chinese family

✍ 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 the Connexin 50 Gene

A Novel Mutation in the Connexin 50 Gene ( GJA8 ) Associated with Autosomal Dominant Congenital Nuclear Cataract in a Chinese Family

✍ Gao, Xiaobo; Cheng, Jie; Lu, Cailing; Li, Xiaoqiao; Li, Feifeng; Liu, Chunmei; Z 📂 Article 📅 2010 🏛 Informa plc 🌐 English ⚖ 936 KB

Further evidence of autosomal dominant c

Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

✍ M.I. Rees; P. Watts; I. Fenton; A. Clarke; R.G. Snell; M.J. Owen; J. Gray 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 238 KB