Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant

Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant

Abstract Background Ion channels, vital transmembrane protein complexes, regulate ion movement within cells. Germline variants in channel-encoding genes lead to channelopathies. The sodium channels in cardiac cells exhibit a structure of an alpha subunit and one to two beta subunits. The alpha subun...

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Bibliographic Details
Main Authors: Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A. Ruiz-Pozo, Rafael Tamayo-Trujillo, Elius Paz-Cruz, Daniel Simancas-Racines, Rita Ibarra-Castillo, José Luis Laso-Bayas, Ana Karina Zambrano
Format: Article
Language:English
Published: BMC 2024-07-01
Series:BMC Cardiovascular Disorders
Subjects:
Genomic
Ancestry
SCN5A
Channelopathies
Ecuador
Online Access:https://doi.org/10.1186/s12872-024-04049-w

Internet

https://doi.org/10.1186/s12872-024-04049-w

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