A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract.
Li
Yang
Y
Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China. yangli64@hotmail.com
Wang
Jun
J
Dong
Bing
B
Man
Hong
H
D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007907:Lens Nucleus, Crystalline / Q000473:pathology*; D008126:Lod Score; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
D017630:Connexins; C082917:GJA3 protein, human; C099106:Gja6 protein, rat