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Article

Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Apr 1994

Jacobson S G, Kemp C M, Cideciyan A V, Macke J P, Sung C H, Nathans J

Abstract excerpt

PURPOSE: To understand the pathophysiology of retinitis pigmentosa caused by mutations in the rhodopsin gene that lead to truncation of the protein. METHODS: Heterozygotes with the glutamine-64-to-ter (Q64ter), the intron 4 splice site, and the glutamine-344-to-ter (Q344ter) mutations in the rhodopsin gene, representing families with at least three generations of affected members, were studied with clinical...

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PMID: 8163341

Genes

ERG

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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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