Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

BACKGROUND: The c.1124_1127delTTCA p.(Ile375Argfs*43) pathogenic variant is the most frequently identified molecular defect in the KCNQ1 gene in the cardiogenetics clinic of the Antwerp University Hospital. This variant was observed in nine families presenting with either Jervell-Lange-Nielsen syndr...

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Detalles Bibliográficos
Autores principales: Sieliwonczyk, Ewa, Alaerts, Maaike, Simons, Eline, Snyders, Dirk, Nijak, Aleksandra, Vandendriessche, Bert, Schepers, Dorien, Akdeniz, Dogan, Van Craenenbroeck, Emeline, Knaepen, Katleen, Rabaut, Laura, Heidbuchel, Hein, Van Laer, Lut, Saenen, Johan, Labro, Alain J., Loeys, Bart
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887867/
https://www.ncbi.nlm.nih.gov/pubmed/36721196
http://dx.doi.org/10.1186/s13023-023-02618-4

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