Condition: LEBER CONGENITAL AMAUROSIS 15
rs387906836 in
TULP1 gene and
LEBER CONGENITAL AMAUROSIS 15
PMID 17962469 2007 Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
PMID 15024725 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.