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Article

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.

Nature genetics - 1 Oct 1997

Maw M A, Kennedy B, Knight A, Bridges R, Roth K E, Mani E J, Mukkadan J K, Nancarrow D, Crabb J W, Denton M J

Abstract excerpt

Inadequate levels of all-trans-retinol in the blood cause retinal dysfunction; hence, genes implicated in retinal vitamin-A metabolism represent candidates for inherited retinal degenerations. In the current study, molecular genetic analysis of a consanguineous pedigree segregating for non-syndromic autosomal recessive retinitis pigmentosa (arRP) indicated that the affected siblings were homozygous by descent for...

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Source

Identifiers

PMID: 9326942
DOI: 10.1038/ng1097-198

Genes

RLBP1
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.PMID 9326942Read ↗

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