A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
Willoughby
C E
CE
Department of Opthalmology, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
Arab
Sara
S
Gandhi
R
R
Zeinali
S
S
Arab
Seddigheh
S
Luk
D
D
Billingsley
G
G
Munier
F L
FL
Héon
E
E
D001120:Arginine / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D017630:Connexins; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007492:Iran; D007907:Lens Nucleus, Crystalline / Q000473:pathology*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D013912:Threonine / Q000235:genetics; D000099264:Connexin 50
D001120:Arginine; D017630:Connexins; D005136:Eye Proteins; D013912:Threonine; D000099264:Connexin 50