Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Dis...
Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?
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Basel, Switzerland: S. Karger AG
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English
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Basel, Switzerland: S. Karger AG
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Objectives: Mutations in genes encoding desmosomal proteins have been linked to arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). We hypothesized that a Scandinavian ARVC/D population would have a different spectrum of plakophilin-2 (PKP2) mutations and that some of the reported missense mutations may not be pathogenic. Methods: W...
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Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?
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TN_cdi_crossref_primary_10_1159_000263456
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_primary_10_1159_000263456
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ISSN
0008-6312
E-ISSN
1421-9751
DOI
10.1159/000263456
