Lopes, Luis-R; García-Hernández, Soledad; Lorenzini, Massimiliano; Futema, Marta; Chumakova, Olga; Zateyshchikov, Dmitry; Isidoro-García, María; Villacorta, Eduardo; Escobar-López, Luis; García-Pavia, Pablo; Bilbao, Raquel; Dobarro, David; Sandin-Fuentes, María; Catalli, Claudio; Gener, Blanca; Mezcua, Ainhoa; García-Pinilla, José; Rasmussen, Torsten-B; Ferreira-Aguar, Ana; Revilla-Marti, Pablo; Basurte-Elorz, María-Teresa; Bautista-Paves, Alicia; Gimeno-Blanes, Juan-Ramón; Figueroa, Ana-Virginia; Franco-Gutiérrez, Raúl; Fuentes-Cañamero, María-Eugenia; Martínez-Moreno, Marina; Ortiz-Genga, Martín; Piqueras-Flores, Jesús; Ramos, Karina-Analia; Rudzitis, Ainars; Ruiz-Guerrero, Luis; Stein, Ricardo; Triguero-Bocharan, Mayte; de-la-Higuera, Luis; Ochoa, Juan-Pablo; Abu-Bonsrah, Dad; Kwok, Cecilia-YT; Smith, Jacob-B; Porrello, Enzo-R; Akhtar, Mohammed-M; Jager, Joanna; Ashworth, Michael; Syrris, Petros; Elliott, David-A; Monserrat, Lorenzo; Elliott, Perry-M
(OXFORD UNIV PRESS, 2021-08-21)
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 ...