Condition: RETINITIS PIGMENTOSA 19


rs61748558 in ABCA4 gene and RETINITIS PIGMENTOSA 19 PMID 11726554 2001 Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

PMID 9973280 1999 Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.

PMID 24444108 2014 Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

PMID 28181551 2017 Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.

PMID 23755871 2013 Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

PMID 23695285 2013 Stargardt disease: towards developing a model to predict phenotype.

PMID 16103129 2005 ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.