A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan.
El-Shanti
H
H
Al-Salem
M
M
El-Najjar
M
M
Ajlouni
K
K
Beck
J
J
Sheffiled
V C
VC
Stone
E M
EM
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D007597:Jordan; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D012160:Retina
D006162:Guanylate Cyclase