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Article

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

Clinical genetics - 1 Nov 2013

Borràs E, de Sousa Dias M, Hernan I, Pascual B, Mañé B, Gamundi M J, Delás B, Carballo M

Abstract excerpt

We explored an approach to detect disease-causing sequence variants in 448 candidate genes from five index cases of autosomal dominant retinitis pigmentosa (adRP) by sequence DNA capture and next-generation DNA sequencing (NGS). Detection of sequence variants was carried out by sequence capture N...

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Source

Identifiers

PMID: 23534816
DOI: 10.1111/cge.12151

Genes

NRL
IMPDH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23534816-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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