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

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland

25 Oct 2017

Abstract excerpt

PURPOSE: To study the genetic aetiology of retinal dystrophies (RD) in Finnish patients. METHODS: A targeted next-generation sequencing (NGS) panel of 105 retinal dystrophy genes was used in a cohort of 55 RD patients. RESULTS: The overall diagnostic yield was 60% demonstrating the power of this approach. Interestingly, a missense mutation c.375C>G p.(Cys125Trp) in the CERKL gene was found in 18% of the patients...

Topics

Join the communities discussing this publication.

Connective tissue disorders research
Genomics and Rare Diseases
Retinopathy of Prematurity Studies

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 29068140
DOI: 10.1111/aos.13551

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A founder mutation in CERKL is a major cause of retinal dystrophy in FinlandPMID 29068140Read ↗

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Semantic proximity Read ↗

Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variantsSemantic proximity Read ↗

Founder Mutation Effect Seen By<i>CERKL</i>Gene Mutation Causing Retinal Dystrophy in North Indian PopulationSemantic proximity Read ↗

CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.Semantic proximity Read ↗

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.Semantic proximity Read ↗

Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies.Semantic proximity Read ↗

Identifying mutations in Tunisian families with retinal dystrophy.Semantic proximity Read ↗

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.Semantic proximity Read ↗

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).Semantic proximity Read ↗

Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family.Semantic proximity Read ↗

A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.Semantic proximity Read ↗

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