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Article

Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

Human molecular genetics - 1 Apr 1995

Macke J P, Hennessey J C, Nathans J

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 7633434
DOI: 10.1093/hmg/4.4.775

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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.

Related research

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Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.PMID 7633434Read ↗

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

Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.Semantic proximity Read ↗

A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.Semantic proximity Read ↗

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu). Mutations in brief no. 208. Online.Semantic proximity Read ↗

Altered functionality in rhodopsin point mutants associated with retinitis pigmentosa.Semantic proximity Read ↗

Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes.Semantic proximity Read ↗

Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.Semantic proximity Read ↗

Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.Semantic proximity Read ↗

Proline residues in transmembrane alpha helices affect the folding of bacteriorhodopsin.Semantic proximity Read ↗

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

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