Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene.

The British journal of ophthalmology - 1 Jul 2009

Charbel Issa P, Bolz H J, Ebermann I, Domeier E, Holz F G, Scholl H P N

Abstract excerpt

AIM: To characterise the ocular phenotype of a family segregating the splice site mutation c.2189+1G>T in the tyrosine kinase receptor gene MERTK. METHODS: Five affected children of a consanguineous Moroccan family were investigated by ophthalmic examinations, including fundus photography, autofluorescence (FAF) imaging, optical coherence tomography (OCT), psychophysical and electrophysiological methods. RESULTS:...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to c-Mer Tyrosine Kinase
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Proto-Oncogene Proteins

Share to Receptor Protein-Tyrosine Kinases

Share to Retinitis Pigmentosa

Share to Tomography, Optical Coherence

Share to Visual Fields

Source

Identifiers

PMID: 19403518
DOI: 10.1136/bjo.2008.147397

Genes

MERTK

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene.PMID 19403518Read ↗

MERTK mutation update in inherited retinal diseases.Semantic proximity Read ↗

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.Semantic proximity Read ↗

MERTK missense variants in three patients with retinitis pigmentosa.Semantic proximity Read ↗

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.Semantic proximity Read ↗

A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.Semantic proximity Read ↗

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.Semantic proximity Read ↗

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosaSemantic proximity Read ↗

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.Semantic proximity Read ↗

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.Semantic proximity Read ↗

Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.Semantic proximity Read ↗

CLINICAL FEATURES OF MERTK -RELATED RETINOPATHY.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.