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Article

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

Proceedings of the National Academy of Sciences of the United States of America - 15 Oct 1991

Dryja T P, Hahn L B, Cowley G S, McGee T L, Berson E L

Abstract excerpt

We searched for point mutations in every exon of the rhodopsin gene in 150 patients from separate families with autosomal dominant retinitis pigmentosa. Including the 4 mutations we reported previously, we found a total of 17 different mutations that correlate with the disease. Each of these mutations is a single-base substitution corresponding to a single amino acid substitution. Based on current models for the...

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Identifiers

PMID: 1833777
DOI: 10.1073/pnas.88.20.9370
PMCID: PMC52716

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