Mutations in RPE65 cause Leber's congenital amaurosis.
Marlhens
F
F
Bareil
C
C
Griffoin
J M
JM
Zrenner
E
E
Amalric
P
P
Eliaou
C
C
Liu
S Y
SY
Harris
E
E
Redmond
T M
TM
Arnaud
B
B
Claustres
M
M
Hamel
C P
CP
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
D002352:Carrier Proteins; D004247:DNA; D017931:DNA Primers; D005136:Eye Proteins; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase