title: Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis.
authors.affiliation: Genetics & Molecular Biology, Vision Research Foundation, Nungambakkam, Chennai, India. gmamatha5@gmail.com
authors.forename: Mamatha
authors.initials: M
authors.lastname: Gandra
authors.forename: Anuradha
authors.initials: A
authors.lastname: Elamparithi
authors.forename: Srilekha
authors.initials: S
authors.lastname: Sundaramurthy
authors.forename: Sripriya
authors.initials: S
authors.lastname: Srivatsan
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D003062:Codon / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics*; D020125:Mutation, Missense; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
chemical_list: D002352:Carrier Proteins; D003062:Codon; D005136:Eye Proteins; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase