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Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities...

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ecf5cd5133884fc7ab8361ac88baf204

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

About this item

Full title

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

Publisher

London: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2020-07, Vol.15 (1), p.1-193, Article 193

Language

English

Formats

Publication information

Publisher

London: BioMed Central Ltd

More information

Scope and Contents

Contents

Genetic contributors to cardiac arrhythmias are often found in cardiovascular conduction pathways and ion channel proteins. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disease of massive heterotopic ossification caused by a highly recurrent R206H mutation in ACVR1/ALK2. This mutation causes abnormal activation of the bone morphogen...

Alternative Titles

Full title

Patients with ACVR1R206H mutations have an increased prevalence of cardiac conduction abnormalities on electrocardiogram in a natural history study of Fibrodysplasia Ossificans Progressiva

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_ecf5cd5133884fc7ab8361ac88baf204

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ecf5cd5133884fc7ab8361ac88baf204

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-020-01465-x

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