Open AccessA Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve
Author(s) -
Marcos Siguero-Álvarez,
Alejandro Salguero-Jiménez,
Joaquím GregoBessa,
Jorge de la Barrera,
Donal MacGrogan,
Belén Prados,
Fernando Sánchez-Sáez,
Rebeca Piñeiro-Sabarís,
Natalia FelipeMedina,
Carlos Torroja,
Manuel J. Gómez,
María SabaterMolina,
Rubén Escribá,
Ivonne Richaud-Patin,
Olalla IglesiasGarcía,
Mauro Sbroggió,
Sergio Callejas,
Declan P. O’Regan,
Kathryn A. McGurk,
Ana Dopazo,
Giovanna Giovinazzo,
Borja Ibáñez,
Lorenzo Monserrat,
José M. PérezPomares,
Fátima SánchezCabo,
Alberto M. Pendás,
Ángel Raya,
Juan R. Gimeno,
José Luis de la Pompa
Publication year - 2022
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.121.058767
Subject(s) - missense mutation , biology , haploinsufficiency , genetics , exome sequencing , nonsense mutation , bicuspid aortic valve , notch signaling pathway , exome , mutation , gene , aortic valve , medicine , phenotype
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