Condition: Cone Dystrophy


rs113106943 in ABCA4 gene and Cone Dystrophy PMID 24265693 2013 Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

PMID 9054934 1997 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.

PMID 10958761 2000 Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

rs137853921 in BBS5 gene and Cone Dystrophy PMID 15137946 2004 Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

rs117522010 in CNGA3 gene and Cone Dystrophy PMID 18521937 2008 Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

rs61749668 in GUCY2D gene and Cone Dystrophy PMID 18055820 2007 An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

rs751163782 in RAB28 gene and Cone Dystrophy PMID 25356532 2015 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

PMID 23746546 2013 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.