A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

BACKGROUND AND AIMS: Mutations in KCNH2 cause long or short QT syndromes (LQTS or SQTS) predisposing to life‐threatening arrhythmias. Over 1000 hERG variants have been described by clinicians, but most remain to be characterised. The objective is to standardise and accelerate the phenotyping process...

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Detalles Bibliográficos
Autores principales: Oliveira‐Mendes, Barbara, Feliciangeli, Sylvain, Ménard, Mélissa, Chatelain, Frank, Alameh, Malak, Montnach, Jérôme, Nicolas, Sébastien, Ollivier, Béatrice, Barc, Julien, Baró, Isabelle, Schott, Jean‐Jacques, Probst, Vincent, Kyndt, Florence, Denjoy, Isabelle, Lesage, Florian, Loussouarn, Gildas, De Waard, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8609418/
https://www.ncbi.nlm.nih.gov/pubmed/34841674
http://dx.doi.org/10.1002/ctm2.609

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