AKAP9-Related Channelopathy: Novel Pathogenic Variant and Review of the Literature

Disease-associated pathogenic variants in the A-Kinase Anchor Protein 9 (AKAP9) (MIM *604001) have been recently identified in patients with autosomal dominant long QT syndrome 11 (MIM #611820), lethal arrhythmia (ventricular fibrillation, polymorphic ventricular tachycardia), Brugada syndrome, and...

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Detalles Bibliográficos
Autores principales: Huynh, Minh-Tuan, Proust, Alexis, Bouligand, Jérôme, Popescu, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690169/
https://www.ncbi.nlm.nih.gov/pubmed/36421840
http://dx.doi.org/10.3390/genes13112167

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690169/
https://www.ncbi.nlm.nih.gov/pubmed/36421840
http://dx.doi.org/10.3390/genes13112167

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