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Article

Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine.

American journal of ophthalmology - 15 May 1991

Berson E L, Rosner B, Sandberg M A, Weigel-DiFranco C, Dryja T P

Abstract excerpt

We studied the ocular findings in eight unrelated patients with a form of autosomal dominant retinitis pigmentosa and the same cytosine-to-thymine transition in the second nucleotide of codon 347 of the rhodopsin gene. This mutation, detected in leukocyte DNA, corresponds to a substitution of leucine for proline in amino acid 347 of the rhodopsin protein, and, therefore, we designated this form of retinitis...

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Identifiers

PMID: 2021172
DOI: 10.1016/s0002-9394(14)73708-0

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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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