Leber congenital amaurosis 15
Leber congenital amaurosis 15 is an autosomal recessive disorder caused by mutations of the TULP1 gene.
Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.[^]
Hanein S et al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.[^]
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.[^]
Mataftsi A et al. (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.[^]
OMIM.ORG articleOmim 613843 [^]