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Article

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.

Nature genetics - 1 Mar 1993

Kajiwara K, Sandberg M A, Berson E L, Dryja T P

Abstract excerpt

The murine rds (retinal degeneration slow) allele is a semidominant null allele that causes photoreceptor degeneration. The wild-type sequence at the rds locus encodes a photoreceptor disc membrane protein named peripherin/RDS. Mutations in the homologous human peripherin/RDS gene can cause autosomal dominant retinitis pigmentosa, but these are missense mutations or deletions of single codons. No obvious null...

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PMID: 8485575
DOI: 10.1038/ng0393-208

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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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A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.PMID 8485575Read ↗

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

The role of the peripherin/RDS gene in retinal dystrophies.Semantic proximity Read ↗

Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.Semantic proximity Read ↗

Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens.Semantic proximity Read ↗

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice.Semantic proximity Read ↗

A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.Semantic proximity Read ↗

A novel complex mutation event in the peripherin/RDS gene in a family with retinal pattern dystrophy.Semantic proximity Read ↗

A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation.Semantic proximity Read ↗

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.Semantic proximity Read ↗

Heterozygous 'null allele' mutation in the human peripherin/RDS gene.Semantic proximity Read ↗

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