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Article

A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.

Investigative ophthalmology & visual science - 22 Aug 2011

Rose Anna M, Mukhopadhyay Rajarshi, Webster Andrew R, Bhattacharya Shomi S, Waseem Naushin H

Abstract excerpt

PURPOSE. This study sets out to identify novel mutations in PRPF31 in a cohort of autosomal dominant retinitis pigmentosa (adRP) patients with a history of nonpenetrance in the family. METHODS. Twenty-one patients with history of nonpenetrant autosomal dominant retinitis pigmentosa were selected; all underwent full ophthalmic examination. Multiplex ligation-dependent probe analysis (MLPA) was performed and, where...

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Share to Nucleic Acid Amplification Techniques
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21715351
DOI: 10.1167/iovs.11-7861

Genes

PRPF31
NDUFA3
OSCAR
TFPT

Provenance

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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