Condition: RETINITIS PIGMENTOSA 49


rs62625014 in CNGA1;NIPAL1;LOC101927157 gene and RETINITIS PIGMENTOSA 49 PMID 15570217 2004 Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.

PMID 7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

PMID 23462753 2013 Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

rs527236058 in NIPAL1;LOC101927157;CNGA1 gene and RETINITIS PIGMENTOSA 49 PMID 7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

PMID 25268133 2014 Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.