TY  - JOUR
AU  - Tinaquero, David
AU  - Utrilla, Raquel
AU  - Filgueiras-Rama, David
AU  - Peinado, Rafael
AU  - Jalife, José
AU  - Bernal, Juan Antonio
AU  - Nieto Marín, Paloma
AU  - Cebrián Castillo, Jorge
AU  - Crespo García, María Teresa
AU  - Cámara Checa, Anabel
AU  - Dago Requena, María
AU  - Alfayate, Silvia
AU  - López-Sendón Hentschel, José Luis
AU  - Tamargo Menéndez, Juan
AU  - Caballero Collado, Ricardo
AU  - Delpón Mosquera, María Eva
PY  - 2022
DO  - 10.1093/cvr/cvab045
SN  - 0008-6363
UR  - https://hdl.handle.net/20.500.14352/91892
T2  - Cardiovascular Research
AB  - AbstractAimsThe transcription factor Tbx5 controls cardiogenesis and drives Scn5a expression in mice. We have identified two variants in TBX5 encoding p. D111Y and p. F206L Tbx5, respectively, in two unrelated patients with structurally normal hearts...
LA  - eng
M2  - 1046
PB  - Oxford University Press
KW  - Tbx5
KW  - Nav1.5
KW  - Ca-calmodulin kinase II
KW  - βIV-spectrin
KW  - Inherited arrhythmogenic syndromes
TI  - Tbx5 variants disrupt Nav1.5 function differently in patients diagnosed with Brugada or Long QT Syndrome.
TY  - journal article
VL  - 118
ER  -