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Rigshospitalet - a part of Copenhagen University Hospital
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New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Analysis of 60 706 Exomes Questions the Role of De Novo Variants Previously Implicated in Cardiac Disease

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  2. Genomic Triangulation in Sudden Unexplained Death in the Young: The Way to Go?

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  3. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes

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  4. CPT1A Missense Mutation Associated With Fatty Acid Metabolism and Reduced Height in Greenlanders

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  5. New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Sudden Cardiac Death in the Young

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  2. Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

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Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal, rare hereditary disease with an estimated prevalence of 1:10 000. The genetic variants that cause CPVT are usually highly penetrant. To date, about 189 variants in 5 genes (RYR2, CASQ2, CALM1, TRND, and KCNJ2) have been associated with CPVT pathogenesis.
Original languageEnglish
JournalCirculation. Cardiovascular genetics
Volume6
Issue number5
Pages (from-to)481-9
Number of pages9
ISSN1942-325X
DOIs
Publication statusPublished - Oct 2013

ID: 42919809