Article
A novel locus for Leber congenital amaurosis on chromosome 14q24.
Human genetics - 1 Sept 1998
Stockton D W, Lewis R A, Abboud E B, Al-Rajhi A, Jabak M, Anderson K L, Lupski J R
Abstract excerpt
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous autosomal recessive retinal dystrophy and the most common genetic cause of congenital visual impairment. We used a DNA pooling strategy comparing the genotypes of affected to unaffected control pools in a genome-wide s...
Topics
- Chromosomes, Human, Pair 14
- Female
- Genetic Linkage
- Genetic Markers
- Genotype
- Humans
- Lod Score
- Male
- Optic Atrophies, Hereditary
- Pedigree
- Saudi Arabia