TY  - GEN
AU  - Ramprasad,Vedam Lakshmi
AU  - Soumittra,Nagasamy
AU  - Nancarrow,Derek
AU  - Sen,Parveen
AU  - McKibbin,Martin
AU  - Williams,Grange A
AU  - Arokiasamy,Tharigopala
AU  - Lakshmipathy,Praveena
AU  - Inglehearn,Chris F
AU  - Kumaramanickavel,Govindasamy
TI  - Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
SN  - 1090-0535
PY  - 2008///0506
KW  - Adult
KW  - Aged
KW  - Base Sequence
KW  - Blindness
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Electroretinography
KW  - Exons
KW  - Eye Proteins
KW  - Female
KW  - Fundus Oculi
KW  - Humans
KW  - Infant
KW  - Male
KW  - Microtubule-Associated Proteins
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Optic Atrophy, Hereditary, Leber
KW  - RNA Splice Sites
N1  - Publication Type: Case Reports; Journal Article
ER  -