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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Front Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2019
Matèries:
Genetics
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars