Disruption of a Conservative Motif in the C-Terminal Loop of the KCNQ1 Channel Causes LQT Syndrome

We identified a single nucleotide variation (SNV) (c.1264A > G) in the KCNQ1 gene in a 5-year-old boy who presented with a prolonged QT interval. His elder brother and mother, but not sister and father, also had this mutation. This missense mutation leads to a p.Lys422Glu (K422E) substitution in...

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Detalles Bibliográficos
Autores principales: Karlova, Maria, Abramochkin, Denis V., Pustovit, Ksenia B., Nesterova, Tatiana, Novoseletsky, Valery, Loussouarn, Gildas, Zaklyazminskaya, Elena, 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/PMC9316142/
https://www.ncbi.nlm.nih.gov/pubmed/35887302
http://dx.doi.org/10.3390/ijms23147953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9316142/
https://www.ncbi.nlm.nih.gov/pubmed/35887302
http://dx.doi.org/10.3390/ijms23147953

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