A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

BACKGROUND: According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. Several missense variants a...

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Detalles Bibliográficos
Autores principales: Nishimura, Motoi, Ueda, Marehiko, Ebata, Ryota, Utsuno, Emi, Ishii, Takuma, Matsushita, Kazuyuki, Ohara, Osamu, Shimojo, Naoki, Kobayashi, Yoshio, Nomura, Fumio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465588/
https://www.ncbi.nlm.nih.gov/pubmed/28595573
http://dx.doi.org/10.1186/s12881-017-0430-7

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