Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548.
Gandra
Mamatha
M
ONGC Department of Genetics & Molecular Biology, Vision Research Foundation, Sankara Nethralaya, 18 College Road, Nungambakkam, Chennai 600006, India. gmamatha5@gmail.com
Sundaramurthy
Srilekha
S
Kumaramanickavel
Govindasamy
G
D019943:Amino Acid Substitution; D002352:Carrier Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D007194:India; D020125:Mutation, Missense; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
D002352:Carrier Proteins; D005136:Eye Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase