SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis

In this case series, we report for the first time a family in which the inherited nonsense mutation [c. 3946C > T (p.Arg1316*)] in the SCN5A gene segregates in association with Brugada syndrome (BrS). Moreover, we also report, for the first time, the frameshift mutation [c.7686delG (p.Ile2563fsX4...

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Detalles Bibliográficos
Publicado en:Front Genet
Main Authors: Micaglio, Emanuele, Monasky, Michelle M., Ciconte, Giuseppe, Vicedomini, Gabriele, Conti, Manuel, Mecarocci, Valerio, Giannelli, Luigi, Giordano, Federica, Pollina, Alberto, Saviano, Massimo, Crisà, Simonetta, Borrelli, Valeria, Ghiroldi, Andrea, D’Imperio, Sara, Di Resta, Chiara, Benedetti, Sara, Ferrari, Maurizio, Santinelli, Vincenzo, Anastasia, Luigi, Pappone, Carlo
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2019
Assuntos:
Genetics
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6384234/
https://ncbi.nlm.nih.gov/pubmed/30828344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00050
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