Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.
D000328:Adult; D003241:Consanguinity; D054815:Cyclic Nucleotide-Gated Cation Channels; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013030:Spain
D054815:Cyclic Nucleotide-Gated Cation Channels; D005136:Eye Proteins; D007473:Ion Channels; D004247:DNA