Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

doi:10.1093/hmg/7.9.1517

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Article

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

Human molecular genetics - 1 Sept 1998

Marquardt A, Stöhr H, Passmore L A, Krämer F, Rivera A, Weber B H

Abstract excerpt

Vitelliform macular dystrophy (Best's disease) is an autosomal dominant, early-onset form of macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium. Genetic linkage has mapped the disease locus to chromosome 11q12-q13.1 within a 980 kb...

Topics

Amino Acid Sequence
Base Sequence
Bestrophins
Chloride Channels
Chromosome Mapping
Chromosomes, Human, Pair 11
DNA Primers
DNA, Complementary
DNA-Binding Proteins
Exons
Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Eye Proteins

Female

Gene Expression

Heterozygote

Humans

Introns

Macular Degeneration

Source

Open in PubMed

Identifiers

PMID: 9700209
DOI: 10.1093/hmg/7.9.1517

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9700209-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).PMID 9700209Read ↗

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