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Article

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

Human mutation - 1 Dec 2002

Paloma Eva, Coco Rosa, Martínez-Mir Amalia, Vilageliu Lluïsa, Balcells Susana, Gonzàlez-Duarte Roser

Abstract excerpt

Genotype-phenotype correlations highlighted the function of ABCA4 in retinitis pigmentosa (RP),cone-rod dystrophy (CRD) and Stargardt/Fundus Flavimaculatus disease (STGD/FFM). Initial screening of ABCA4 variants showed a correlation between the type of mutation and the severity of the disease. In the present study we have undertaken mutational and haplotype analysis of ABCA4 in three mixed pedigrees segregating...

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Source

Identifiers

PMID: 12442277
DOI: 10.1002/humu.9086

Genes

ABCA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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