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.

doi:10.1006/bbrc.1997.6052

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Article

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.

Biochemical and biophysical research communications - 3 Feb 1997

Shastry B S, Trese M T

Abstract excerpt

Retinitis punctata albescens is a progressive retinal disorder which shows a variety of clinical manifestations. It is very similar to retinitis pigmentosa, but the affected individuals do not show intraretinal pigmentation. In this report we studied one sporadic type retinitis punctata albescens...

Topics

Adolescent
Exons
Eye Proteins
Female
Humans
Intermediate Filament Proteins
Male
Membrane Glycoproteins
Mutation
Nerve Tissue Proteins
Pedigree
Peripherins
Polymorphism, Single-Stranded Conformational
Retinitis Pigmentosa

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Open in PubMed

Identifiers

PMID: 9070228
DOI: 10.1006/bbrc.1997.6052

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9070228-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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