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Article

A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.

Human genomics - 4 Jul 2018

Chen Yabin, Huang Li, Jiao Xiaodong, Riazuddin Sheikh, Riazuddin S Amer, Fielding Hetmancik J

Abstract excerpt

BACKGROUND AND PURPOSE: Retinitis pigmentosa is an important cause of severe visual dysfunction. This study reports a novel splicing mutation in the lecithin retinol acyltransferase (LRAT) gene associated with early onset retinitis pigmentosa and characterizes the effects of this mutation on mRNA splicing and structure. METHODS: Genome-wide linkage analysis followed by dideoxy sequencing of the linked candidate...

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Source

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Identifiers

PMID: 29973277
DOI: 10.1186/s40246-018-0165-3
PMCID: PMC6033202

Genes

LRAT

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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