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Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogen...

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogen...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8571136

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy

About this item

Full title

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Journal of applied genetics, 2021-12, Vol.62 (4), p.613-620

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by mutations in genes encoding desmosomal proteins. Variants in plakophilin-2 gene (
PKP2
) are the most common cause of the disease, associated with conventional ARVC phenotype. The study aims to evaluate the prevalence of
PKP2
variants and examine genotype–phenoty...

Alternative Titles

Full title

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8571136

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8571136

Other Identifiers

ISSN

1234-1983

E-ISSN

2190-3883

DOI

10.1007/s13353-021-00647-y

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