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Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo

Autor: van Lint, Freyja H. M., Murray, Brittney, Tichnell, Crystal, Zwart, Rob, Amat, Nuria, Lekanne Deprez, Ronald H., Dittmann, Sven, Stallmeyer, Birgit, Calkins, Hugh, van der Smagt, Jasper J., van den Wijngaard, Arthur, Dooijes, Dennis, van der Zwaag, Paul A., Schulze-Bahr, Eric, Judge, Daniel P., Jongbloed, Jan D. H., van Tintelen, J. Peter, James, Cynthia A.

Publikováno v: Circulation. Genomic and precision medicine, 12(8). Lippincott Williams and Wilkins Ltd.

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with pathogenic/likely pathogenic (P/LP) variants in genes encoding the cardiac desmosomal proteins. Origin of these variants, including de novo mutation rate and extent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::47d774d99bed78b498d72025d8fa6af6
https://pure.amc.nl/en/publications/arrhythmogenic-right-ventricular-cardiomyopathyassociated-desmosomal-variants-are-rarely-de-novo(3c3ceea3-a3ef-4d13-8c86-d28985aa4182).html

Buccal Mucosa Cells as a Potential Diagnostic Tool to Study Onset and Progression of Arrhythmogenic Cardiomyopathy.

Autor: Driessen HE; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., van der Voorn SM; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., Bourfiss M; Department of Cardiology, Division Heart & Lungs, University Medical Center Utrecht, 3508 GA Utrecht, The Netherlands., van Lint FHM; Department of Genetics, Division Heart & Lungs, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Mirzad F; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., Onsri LE; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., Vos MA; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands., van Veen TAB; Department of Medical Physiology, Division Heart & Lungs, University Medical Center Utrecht, 3584 CM Utrecht, The Netherlands.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2021 Dec 21; Vol. 23 (1). Date of Electronic Publication: 2021 Dec 21.