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

Selected mutations in the myosin binding protein C gene in the Polish population of patients with hypertrophic cardiomyopathy.

Kardiologia polska - 1 Aug 2008

Rudziński Tomasz, Selmaj Krzysztof, Drozdz Jarosław, Krzemińska-Pakuła Maria

Abstract excerpt

BACKGROUND: Mutations in the gene of myosin binding protein C (MYBPC3) are currently considered the most frequent cause of hypertrophic cardiomyopathy (HCM). AIM: To assess the frequency of selected mutations in MYBPC3 in the Polish population of HCM patients. METHODS: One hundred eighteen patients with HCM and 118 healthy, age and sex-matched controls were screened for the presence of 14 mutations of MYBPC3...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Hypertrophic
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Case-Control Studies

Share to Gene Frequency

Share to Genetics, Population

Share to Mutation

Share to Poland

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 18803133

Genes

MYBPC3

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

Selected mutations in the myosin binding protein C gene in the Polish population of patients with hypertrophic cardiomyopathy.PMID 18803133Read ↗

Spectrum of MYBPC3 Gene Mutations in Patients with Hypertrophic Cardiomyopathy, Reporting Two Novel Mutations from North-West of Iran.Semantic proximity Read ↗

Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.Semantic proximity Read ↗

Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.Semantic proximity Read ↗

Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.Semantic proximity Read ↗

Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.Semantic proximity Read ↗

Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy.Semantic proximity Read ↗

MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.Semantic proximity Read ↗

Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Targeting the population for gene therapy with MYBPC3.Semantic proximity Read ↗

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