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Article

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.

BioMed research international - 1 Jan 2015

El Shamieh Said, Boulanger-Scemama Elise, Lancelot Marie-Elise, Antonio Aline, Démontant Vanessa, Condroyer Christel, Letexier Mélanie, Saraiva Jean-Paul, Mohand-Saïd Saddek, Sahel José-Alain, Audo Isabelle, Zeitz Christina

Abstract excerpt

We report ophthalmic and genetic findings in families with autosomal recessive rod-cone dystrophy (arRCD) and RP1 mutations. Detailed ophthalmic examination was performed in 242 sporadic and arRCD subjects. Genomic DNA was investigated using our customized next generation sequencing panel targeting up to 123 genes implicated in inherited retinal disorders. Stringent filtering coupled with Sanger sequencing and...

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Identifiers

PMID: 25692139
DOI: 10.1155/2015/485624
PMCID: PMC4307388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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