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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 24 Oct 1995

Dryja T P, Finn J T, Peng Y W, McGee T L, Berson E L, Yau K W

Abstract excerpt

Mutations in the genes encoding two proteins of the retinal rod phototransduction cascade, opsin and the beta subunit of rod cGMP phosphodiesterase, cause retinitis pigmentosa (RP) in some families. Here we report defects in a third member of this biochemical pathway in still other patients with this disease. We screened 94 unrelated patients with autosomal dominant RP and 173 unrelated patients with autosomal...

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Identifiers

PMID: 7479749
DOI: 10.1073/pnas.92.22.10177
PMCID: PMC40759

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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