TY  - GEN
AU  - Gandra,Mamatha
AU  - Elamparithi,Anuradha
AU  - Sundaramurthy,Srilekha
AU  - Srivatsan,Sripriya
TI  - Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis
SN  - 1432-1203
PY  - 2011///0506
KW  - Amino Acid Substitution
KW  - Base Sequence
KW  - Carrier Proteins
KW  - genetics
KW  - Codon
KW  - Eye Proteins
KW  - Homozygote
KW  - Humans
KW  - Leber Congenital Amaurosis
KW  - Mutation, Missense
KW  - cis-trans-Isomerases
N1  - Publication Type: Journal Article
ER  -