Lebersche kongenitale Amaurose 14 ist eine autosomal rezessive Erkrankung, die auf Mutationen des LRAT-Gens beruht.
1. |
Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. |
2. |
den Hollander AI et al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. |
3. |
Thompson DA et al. (2001) Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. |
4. |
Sénéchal A et al. (2006) Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. |
5. |
OMIM.ORG article Omim 613341 |