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Article

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

The Journal of molecular diagnostics : JMD - 1 Nov 2016

Li Jianli, Tang Jia, Feng Yanming, Xu Mingchu, Chen Rui, Zou Xuan, Sui Ruifang, Chang Emmanuel Y, Lewis Richard A, Zhang Victor W, Wang Jing, Wong Lee-Jun C

Abstract excerpt

Retinitis pigmentosa (RP) is the most common form of retinal dystrophy. The disease is characterized by the progressive degeneration of photoreceptors, ultimately leading to blindness. The exon ORF15 of RP GTPase regulator (RPGR) is a mutation hot spot for X-linked RP and one form of cone dystrophy. However, accurate molecular testing of ORF15 is challenging because of a large segment of highly repetitive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27620828
DOI: 10.1016/j.jmoldx.2016.06.007

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.PMID 27620828Read ↗

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