Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome

Background: The KCNJ2 gene encodes inward rectifier Kir2.1 channels, maintaining resting potential and cell excitability. Presumably, clinical phenotypes of mutation carriers correlate with ion permeability defects. Loss-of-function mutations lead to QTc prolongation with variable dysmorphic feature...

Descripción completa

Detalles Bibliográficos
Autores principales: Zaklyazminskaya, Elena, Polyak, Margarita, Shestak, Anna, Sadekova, Mariam, Komoliatova, Vera, Kiseleva, Irina, Makarov, Leonid, Podolyak, Dmitriy, Glukhov, Grigory, Zhang, Han, Abramochkin, Denis, Sokolova, Olga S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9025978/
https://www.ncbi.nlm.nih.gov/pubmed/35456365
http://dx.doi.org/10.3390/genes13040559

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9025978/
https://www.ncbi.nlm.nih.gov/pubmed/35456365
http://dx.doi.org/10.3390/genes13040559

Ejemplares similares