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Article

Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

PloS one - 1 Jan 2014

González-del Pozo María, Méndez-Vidal Cristina, Bravo-Gil Nereida, Vela-Boza Alicia, Dopazo Joaquin, Borrego Salud, Antiñolo Guillermo

Abstract excerpt

This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP (arRP) and one with two possible modes of inheritance: arRP or X-Linked RP (XLRP). We performed whole exome sequencing (WES) using NimbleGen SeqCap EZ Exome V3 sample preparation kit and SOLID 5500xl...

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Chromosome Segregation
DNA Mutational Analysis
Exome
Family
Inheritance Patterns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Dystrophies

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Open in PubMed Open full text

Identifiers

PMID: 25544989
DOI: 10.1371/journal.pone.0116176
PMCID: PMC4278866

Genes

ABCA4
RHO
RPGR

Variants

Provenance

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

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