Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.

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Article

Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.

American journal of human genetics - 1 Jan 1994

Nichols B E, Bascom R, Litt M, McInnes R, Sheffield V C, Stone E M

Abstract excerpt

Vitelliform macular dystrophy (Best disease) is an autosomal dominant macular dystrophy which shares important clinical features with age-related macular degeneration, the most common cause of legal blindness in the elderly. Unfortunately, our understanding and treatment for this common age-relat...

Topics

Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 11
DNA Primers
Eye Proteins
Female
Humans
Macular Degeneration
Male
Membrane Proteins
Molecular Sequence Data
Mutation
Pedigree
Tetraspanins

Source

Open in PubMed Open full text

Identifiers

PMID: 8279475
PMCID: PMC1918069

Genes

ROM1
PYGM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8279475-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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