title: A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan.
authors.forename: H
authors.initials: H
authors.lastname: El-Shanti
authors.forename: M
authors.initials: M
authors.lastname: Al-Salem
authors.forename: M
authors.initials: M
authors.lastname: El-Najjar
authors.forename: K
authors.initials: K
authors.lastname: Ajlouni
authors.forename: J
authors.initials: J
authors.lastname: Beck
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffiled
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
mesh_terms: 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
chemical_list: D006162:Guanylate Cyclase