title: Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
authors: I
authors: I
authors: Perrault
authors: J M
authors: JM
authors: Rozet
authors: I
authors: I
authors: Ghazi
authors: C
authors: C
authors: Leowski
authors: M
authors: M
authors: Bonnemaison
authors: S
authors: S
authors: Gerber
authors: D
authors: D
authors: Ducroq
authors: A
authors: A
authors: Cabot
authors: E
authors: E
authors: Souied
authors: J L
authors: JL
authors: Dufier
authors: A
authors: A
authors: Munnich
authors: J
authors: J
authors: Kaplan
mesh_terms: D001766:Blindness / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D002352:Carrier Proteins; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003241:Consanguinity; D005136:Eye Proteins; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface; D017949:Retinal Cone Photoreceptor Cells / Q000503:physiopathology; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D005136:Eye Proteins; D006162:Guanylate Cyclase; D011506:Proteins; D011956:Receptors, Cell Surface; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase; C110715:guanylate cyclase 1