Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.

doi:10.1167/iovs.06-0307

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Article

Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.

Investigative ophthalmology & visual science - 1 Mar 2007

Valverde Diana, Riveiro-Alvarez Rosa, Aguirre-Lamban Jana, Baiget Montserrat, Carballo Miguel, Antiñolo Guillermo, Millán José Maria, Garcia Sandoval Blanca, Ayuso Carmen

Abstract excerpt

PURPOSE: The purpose of this study is to describe the spectrum of mutations in the ABCA4 gene found in Spanish patients affected with several retinal dystrophies. METHODS: Sixty Spanish families with different retinal dystrophies were studied. Samples were analyzed for variants in all 50 exons of the ABCA4 gene by screening with the ABCR400 microarray, and results were confirmed by direct sequencing. Haplotype...

Topics

ATP-Binding Cassette Transporters
Adult
Alleles
Chromatography, High Pressure Liquid
Exons
Genetic Variation
Humans
Microsatellite Repeats
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotide Array Sequence Analysis

Photoreceptor Cells, Vertebrate

Polymerase Chain Reaction

Retinal Degeneration

Sequence Analysis, DNA

Spain

Source

Open in PubMed

Identifiers

PMID: 17325136
DOI: 10.1167/iovs.06-0307

Genes

ABCA4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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