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Preliminary genealogical evidence for the Plakophilin-2 gene, PKP2 c.1162C>T founder mutation in cases with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a progressive form of inherited heart muscle disease characterized by ventricular arrhythmias and sudden cardiac death. Often the pathogenesis is linked to deleterious mutations in the desmosomal gene plakophilin-2 (PKP2). We ex...
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| Format: | Thesis |
| Language: | English |
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Department of Paediatrics and Child Health
2017
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