๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts

โœ Scribed by Nandrot, E

Book ID
125445944
Publisher
BMJ Publishing Group
Year
2003
Tongue
English
Weight
590 KB
Volume
40
Category
Article
ISSN
0022-2593

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

A novel CRYGD mutation (p.Trp43Arg) caus
A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family
โœ Binbin Wang; Changhong Yu; Yi-Bo Xi; Hong-Chen Cai; Jing Wang; Sirui Zhou; Shiyi ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 206 KB

To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family, molecular genetic investigation via haplotype analysis and direct sequencing were performed Sequencing of the __CRYGD__ gene revealed a c.127T>C transition, which resulted in a substitu

Mutations of the EPHA2 receptor tyrosine
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract
โœ Tianxiao Zhang; Rui Hua; Wei Xiao; Kathryn P. Burdon; Shomi S. Bhattacharya; Jam ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 520 KB

Congenital cataracts (CCs) are clinically and genetically heterogeneous. Mutations in the same gene may lead to CCs differing in inheritance, morphology and severity. Loci for autosomal dominant posterior polar CC and total CC have both been mapped to the chromosomal 1p36 region harboring the EPHA2