Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis.

Ramprasad, Vedam Lakshmi

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. [electronic resource] - Molecular vision Mar 2008 - 481-6 p. digital

Publication Type: Case Reports; Journal Article

1090-0535


Adult
Aged
Base Sequence
Blindness--genetics
Child
Child, Preschool
DNA Mutational Analysis
Electroretinography
Exons--genetics
Eye Proteins--genetics
Female
Fundus Oculi
Humans
Infant
Male
Microtubule-Associated Proteins--genetics
Middle Aged
Molecular Sequence Data
Mutation--genetics
Optic Atrophy, Hereditary, Leber--genetics
RNA Splice Sites--genetics