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Article

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Human genetics - 1 Feb 2015

Zhao Li, Wang Feng, Wang Hui, Li Yumei, Alexander Sharon, Wang Keqing, Willoughby Colin E, Zaneveld Jacques E, Jiang Lichun, Soens Zachry T, Earle Philip, Simpson David, Silvestri Giuliana, Chen Rui

Abstract excerpt

Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by progressive photoreceptor degeneration. An accurate molecular diagnosis is essential for disease characterization and clinical prognoses. A retinal capture panel that enriches 186 known retinal disease genes, including 55 known RP genes, was developed. Targeted next-generation sequencing was performed for a cohort of 82 unrelated...

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Identifiers

PMID: 25472526
DOI: 10.1007/s00439-014-1512-7
PMCID: PMC4347882

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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