Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

AIMS: The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies. METHODS AND RESULTS : In a...

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Detalles Bibliográficos
Autores principales: Lopes, Luis R, Garcia-Hernández, Soledad, Lorenzini, Massimiliano, Futema, Marta, Chumakova, Olga, Zateyshchikov, Dmitry, Isidoro-Garcia, Maria, Villacorta, Eduardo, Escobar-Lopez, Luis, Garcia-Pavia, Pablo, Bilbao, Raquel, Dobarro, David, Sandin-Fuentes, Maria, Catalli, Claudio, Gener Querol, Blanca, Mezcua, Ainhoa, Garcia Pinilla, Jose, Bloch Rasmussen, Torsten, Ferreira-Aguar, Ana, Revilla-Martí, Pablo, Basurte Elorz, Maria Teresa, Bautista Paves, Alicia, Ramon Gimeno, Juan, Figueroa, Ana Virginia, Franco-Gutierrez, Raul, Fuentes-Cañamero, Maria Eugenia, Martinez Moreno, Marina, Ortiz-Genga, Martin, Piqueras-Flores, Jesus, Analia Ramos, Karina, Rudzitis, Ainars, Ruiz-Guerrero, Luis, Stein, Ricardo, Triguero-Bocharán, Mayte, de la Higuera, Luis, Ochoa, Juan Pablo, Abu-Bonsrah, Dad, Kwok, Cecilia Y T, Smith, Jacob B, Porrello, Enzo R, Akhtar, Mohammed M, Jager, Joanna, Ashworth, Michael, Syrris, Petros, Elliott, David A, Monserrat, Lorenzo, Elliott, Perry M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Clinical Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8380059/
https://www.ncbi.nlm.nih.gov/pubmed/34263907
http://dx.doi.org/10.1093/eurheartj/ehab424

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8380059/
https://www.ncbi.nlm.nih.gov/pubmed/34263907
http://dx.doi.org/10.1093/eurheartj/ehab424

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