Compound Heterozygous KCNQ1 Mutations Causing Recessive Romano–Ward Syndrome: Functional Characterization by Mutant Co-expression

Next Generation Sequencing has identified many KCNQ1 genetic variants associated with type 1 long QT or Romano-Ward syndrome, most frequently inherited in an autosomal dominant fashion, although recessive forms have been reported. Particularly in the case of missense variants, functional studies of...

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Detalhes bibliográficos
Publicado no:Front Cardiovasc Med
Main Authors: González-Garrido, Antonia, Domínguez-Pérez, Mayra, Jacobo-Albavera, Leonor, López-Ramírez, Omar, Guevara-Chávez, José Guadalupe, Zepeda-García, Oscar, Iturralde, Pedro, Carnevale, Alessandra, Villarreal-Molina, Teresa
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Cardiovascular Medicine
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7937651/
https://ncbi.nlm.nih.gov/pubmed/33693037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fcvm.2021.625449
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