Condition: LEBER CONGENITAL AMAUROSIS 6 (disorder)


rs1566674809 in RPGRIP1 gene and LEBER CONGENITAL AMAUROSIS 6 (disorder) PMID 30576320 2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

PMID 11528500 2001 Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

PMID 24981858 2014 C2 domains as protein-protein interaction modules in the ciliary transition zone.

PMID 17306875 2007 Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

PMID 17554762 2007 Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.

PMID 18682808 2008 Molecular characterization of Leber congenital amaurosis in Koreans.

PMID 20079931 2010 Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.