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Article

Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain.

Journal of applied genetics - 1 Jan 2003

Moric Ewa, Mazurek Urszula, Połońska Joanna, Domal-Kwiatkowska Dorota, Smolik Sławomir, Kozakiewicz Krystyna, Tendera Michał, Wilczok Tadeusz

Abstract excerpt

Familial hypertrophic cardiomyopathy has a complex multigenic background. Previous work allowed to determine one of the gene loci responsible for this disease on chromosome 14 band q11-q12, and linked it to the alpha and beta-cardiac myosin heavy chains. In this study we demonstrate changes in exon 21, coding for beta-myosin heavy chain. We described 4 patients from different families with an unequivocal...

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Share to Cardiomyopathy, Hypertrophic, Familial
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Myosin Heavy Chains

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Share to Polymorphism, Single-Stranded Conformational

Share to Ventricular Myosins

Source

Identifiers

PMID: 12590187

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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