Abnormal retinal architecture in a 33-week-old fetus with LCA and a homozygous C330Y mutation in RPE65.
Koenekoop
Robert K
RK
Department of Ophthalmology, McGill University, Montreal Children's Hospital, Montreal, Quebec, Canada.
D001766:Blindness / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins; D004252:DNA Mutational Analysis; D005136:Eye Proteins; D005315:Fetal Diseases / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics* / Q000473:pathology; D011506:Proteins / Q000235:genetics*; D012160:Retina / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
D002352:Carrier Proteins; D005136:Eye Proteins; D011506:Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase