Condition: Retinitis Pigmentosa 26
rs1553513437 in
CERKL gene and
Retinitis Pigmentosa 26
PMID 28041643 2017 Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
PMID 27874104 2016 Identifying mutations in Tunisian families with retinal dystrophy.
PMID 14681825 2004 Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).
PMID 18978954 2008 A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.