Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.

doi:10.1016/s0002-9394(98)00097-x

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Article

Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.

American journal of ophthalmology - 1 Sept 1998

Edwards A O, Klein M L, Berselli C B, Hejtmancik J F, Rust K, Wirtz M K, Weleber R G, Acott T S

Abstract excerpt

PURPOSE: To study the phenotypic variability in patients inheriting the disease gene for malattia leventinese (dominant macular drusen) and refine the localization of the gene. METHODS: A family with dominant radial drusen was ascertained and studied with clinical examination and DNA linkage anal...

Topics

Adolescent
Adult
Aged
Chromosome Mapping
Chromosomes, Human, Pair 2
DNA
Female
Fluorescein Angiography
Fundus Oculi
Genetic Linkage
Genotype
Humans
Lod Score
Male
Middle Aged
Pedigree
Phenotype
Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 9744375
DOI: 10.1016/s0002-9394(98)00097-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9744375-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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