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Article

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.

Human mutation - 1 Jan 1996

Keen T J, Inglehearn C F

Abstract excerpt

The RDS gene codes for the protein peripherin-RDS, which is an integral membrane glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is thought to function as a structural protein involved in the maintenance of the flattened form of the disc lamellae. The RDS gene has been implicated in the mouse phenotype retinal degeneration slow, and mutations in the human homologue are now...

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

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Source

Identifiers

PMID: 8956033
DOI: 10.1002/(SICI)1098-1004(1996)8:4<297::AID-HUMU1>3.0.CO;2-5

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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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Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.PMID 8956033Read ↗

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Polymorphic variation within "conserved" sequences at the 3' end of the human RDS gene which results in amino acid substitutions.Semantic proximity Read ↗

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