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Article

Molecular genetic heterogeneity in autosomal dominant drusen.

Journal of medical genetics - 1 Jun 2001

Tarttelin E E, Gregory-Evans C Y, Bird A C, Weleber R G, Klein M L, Blackburn J, Gregory-Evans K

Abstract excerpt

OBJECTIVE: Autosomal dominant drusen is of particular interest because of its phenotypic similarity to age related macular degeneration. Currently, mutation R345W of EFEMP1 and, in a single pedigree, linkage to chromosome 6q14 have been causally related to the disease. We proposed to investigate and quantify the roles of EFEMP1 and the 6q14 locus in dominant drusen patients from the UK and USA. DESIGN: Molecular...

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Source

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Identifiers

PMID: 11389162
DOI: 10.1136/jmg.38.6.381
PMCID: PMC1734899

Genes

EFEMP1

Provenance

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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Molecular genetic heterogeneity in autosomal dominant drusen.PMID 11389162Read ↗

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