Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis.

Gandra, Mamatha

Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis. [electronic resource] - Human genetics Apr 2010 - 479 p. digital

Publication Type: Journal Article

1432-1203


Amino Acid Substitution
Base Sequence
Carrier Proteins--genetics
Codon--genetics
Eye Proteins--genetics
Homozygote
Humans
Leber Congenital Amaurosis--genetics
Mutation, Missense
cis-trans-Isomerases