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Article

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

European journal of human genetics : EJHG - 1 Jan 2010

Pomares Esther, Riera Marina, Permanyer Jon, Méndez Pilar, Castro-Navarro Joaquín, Andrés-Gutiérrez Angeles, Marfany Gemma, Gonzàlez-Duarte Roser

Abstract excerpt

Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP genetic testing by devising a chip based on co-segregation analysis for the autosomal recessive forms. In this study, we aimed to design a diagnostic tool for all the known genes (40 up to now) responsible for the...

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Source

Open in PubMed Open full text

Identifiers

PMID: 19584904
DOI: 10.1038/ejhg.2009.114
PMCID: PMC2987167

Genes

PRPF31

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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