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Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population

Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4930081

Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population

About this item

Full title

Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population

Publisher

England: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.732-738

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

A rare genetic variant in the desmosomal gene plakophilin-2 (PKP2) c.419C>T(p.(S140F)) has repeatedly been identified in patients with dilated cardiomyopathy (DCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC). Whether this is a disease-causing variant remains highly controversial. We tested this hypothesis using three approaches. Init...

Alternative Titles

Full title

Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4930081

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4930081

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2015.171

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