Genotype–Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene

Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the SCN5A gene are the single most common known genetic unifier, accounting for about a third of cases. Research...

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Bibliografiset tiedot
Julkaisussa:Int J Mol Sci
Päätekijät: Monasky, Michelle M., Micaglio, Emanuele, Giachino, Daniela, Ciconte, Giuseppe, Giannelli, Luigi, Locati, Emanuela T., Ramondini, Elisa, Cotugno, Roberta, Vicedomini, Gabriele, Borrelli, Valeria, Ghiroldi, Andrea, Anastasia, Luigi, Pappone, Carlo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2019
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6888117/
https://ncbi.nlm.nih.gov/pubmed/31698696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20225522
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