Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

Brugada syndrome (BrS) is a known cause of sudden cardiac death. The genetic basis of BrS is not well understood, and no one single gene is linked to even a majority of BrS cases. However, mutations in the gene SCN5A are the most common, although the high amount of phenotypic variability prevents a...

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Publicat a:Front Physiol
Autors principals: Monasky, Michelle M., Micaglio, Emanuele, Ciconte, Giuseppe, Benedetti, Sara, Di Resta, Chiara, Vicedomini, Gabriele, Borrelli, Valeria, Ghiroldi, Andrea, Piccoli, Marco, Anastasia, Luigi, Santinelli, Vincenzo, Ferrari, Maurizio, Pappone, Carlo
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Physiology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6546918/
https://ncbi.nlm.nih.gov/pubmed/31191357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2019.00666
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