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Article

Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.

Advances in experimental medicine and biology - 1 Jan 2010

Daiger Stephen P, Sullivan Lori S, Bowne Sara J, Birch David G, Heckenlively John R, Pierce Eric A, Weinstock George M

Abstract excerpt

The causes of retinitis pigmentosa (RP) are highly heterogeneous, with mutations in more than 60 genes known to cause syndromic and non-syndromic forms of disease. The prevalence of detectable mutations in known genes ranges from 25 to 85%, depending on mode of inheritance. For example, the likelihood of detecting a disease-causing mutation in known genes in patients with autosomal dominant RP (adRP) is 60% in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20238032
DOI: 10.1007/978-1-4419-1399-9_37
PMCID: PMC2909649

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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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