Condition: RETINITIS PIGMENTOSA 43


rs121918577 in PDE6A gene and RETINITIS PIGMENTOSA 43 PMID 7493036 1995 Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase.

PMID 10393062 1999 Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.