Associated Papers
Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.
Jin A et al.
Frontiers in Cell and Developmental Biology, 2022
Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.
Rechsteiner D et al.
Jama Ophthalmology, 2021
The impact of GJA8 SNPs on susceptibility to age-related cataract.
Yu X et al.
Human Genetics, 2018
30349978 (PubMed )
Supplement: 439_2018_1945_MOESM1_ESM.docx
Connexinopathies: a structural and functional glimpse.
García IE et al.
Bmc Cell Biology, 2016
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.
Min HY et al.
Chinese Medical Journal, 2016
Gap junctions or hemichannel-dependent and independent roles of connexins in cataractogenesis and lens development.
Jiang JX
Current Molecular Medicine, 2010
A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract.
Yan M et al.
Molecular Vision, 2008
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
Burdon KP et al.
Journal of Medical Genetics, 2004
Genetics of childhood cataract.
Francis PJ et al.
Current Opinion in Ophthalmology, 2004
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