Gerber, Sylvie

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. [electronic resource] - Human mutation Dec 2007 - 1245 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.9513 doi


DNA Mutational Analysis
Eye Proteins--genetics
Family Health
Female
Genotype
Humans
Male
Microtubule-Associated Proteins--genetics
Mutation
Optic Atrophy, Hereditary, Leber--genetics
Pedigree
Phenotype