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Article

Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.

Investigative ophthalmology & visual science - 5 Aug 2011

Aguirre-Lamban Jana, González-Aguilera Juan José, Riveiro-Alvarez Rosa, Cantalapiedra Diego, Avila-Fernandez Almudena, Villaverde-Montero Cristina, Corton Marta, Blanco-Kelly Fiona, Garcia-Sandoval Blanca, Ayuso Carmen

Abstract excerpt

PURPOSE: Mutations in ABCA4 have been associated with autosomal recessive Stargardt disease, autosomal recessive cone-rod dystrophy, and autosomal recessive retinitis pigmentosa. The purpose of this study was to determine (1) associations among mutations and polymorphisms and (2) the role of the polymorphisms as protector/risk factors. METHODS: A case-control study was designed in which 128 Spanish patients and...

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Source

Identifiers

PMID: 21330655
DOI: 10.1167/iovs.10-5743

Genes

ABCA4

Variants

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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Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.PMID 21330655Read ↗

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