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Article

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.

The British journal of ophthalmology - 1 Oct 2008

Brea-Fernández A J, Pomares E, Brión M J, Marfany G, Blanco M J, Sánchez-Salorio M, González-Duarte R, Carracedo A

Abstract excerpt

BACKGROUND/AIM: Mutations in MERTK, a member of the MER/AXL/TYRO3 receptor kinase family, have been associated with disruption of the Retinal Pigment Epithelium (RPE) phagocytosis pathway and settling of autosomal recessive RP (arRP) in humans. This study reports a novel MERTK mutation (IVS16+1G>T) in a Spanish consanguineous family presenting arRP. METHODS: 21 genes were screened by high-throughput SNP...

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Source

Identifiers

PMID: 18815424
DOI: 10.1136/bjo.2008.139204

Genes

MERTK
AXL
RPE
TYRO3

Provenance

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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