Condition: Leber Congenital Amaurosis 14


rs104893848 in LRAT gene and Leber Congenital Amaurosis 14 PMID 18055821 2007 Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

PMID 17011878 2006 Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

PMID 11381255 2001 Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.