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Article

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Apr 1995

Kim R Y, Dollfus H, Keen T J, Fitzke F W, Arden G B, Bhattacharya S S, Bird A C

Abstract excerpt

OBJECTIVE: To define the phenotype of a retinal dystrophy associated with a 4-base pair insertion at codon 140 of the peripherin/RDS gene. PATIENTS: Six affected members spanning two generations of a single family were examined. Five were studied in detail electrophysiologically and psychophysically. METHODS: Psychophysical testing included color vision testing, photopic and scotopic static threshold perimetry,...

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Identifiers

PMID: 7710395
DOI: 10.1001/archopht.1995.01100040067029

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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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Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.PMID 7710395Read ↗

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