title: Mutations in RPE65 cause Leber's congenital amaurosis.
authors.forename: F
authors.initials: F
authors.lastname: Marlhens
authors.forename: C
authors.initials: C
authors.lastname: Bareil
authors.forename: J M
authors.initials: JM
authors.lastname: Griffoin
authors.forename: E
authors.initials: E
authors.lastname: Zrenner
authors.forename: P
authors.initials: P
authors.lastname: Amalric
authors.forename: C
authors.initials: C
authors.lastname: Eliaou
authors.forename: S Y
authors.initials: SY
authors.lastname: Liu
authors.forename: E
authors.initials: E
authors.lastname: Harris
authors.forename: T M
authors.initials: TM
authors.lastname: Redmond
authors.forename: B
authors.initials: B
authors.lastname: Arnaud
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: C P
authors.initials: CP
authors.lastname: Hamel
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D001766:Blindness / Q000151:congenital* / Q000235:genetics*; D002352:Carrier Proteins; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D004247:DNA; D017931:DNA Primers; D005136:Eye Proteins; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase