TY  - JOUR
AU  - Núñez Fernández, Lucía
AU  - Barana Muñoz, Adriana
AU  - Amorós García, Irene
AU  - González de la Fuente, Marta
AU  - Dolz Gaitón, Pablo
AU  - Gómez García, Ricardo
AU  - Rodríguez García, Isabel
AU  - Mosquera, Ignacio
AU  - Monserrat, Lorenzo
AU  - Delpón Mosquera, María Eva
AU  - Caballero Collado, Ricardo
AU  - Castro Beirás, Alfonso
AU  - Tamargo Menéndez, Juan
PY  - 2013
DO  - 10.1016/j.hrthm.2012.10.025
SN  - 0014-2972
UR  - https://hdl.handle.net/20.500.14352/100149
T2  - Heart Rhythm
AB  - Background: We identified 2 compound heterozygous mutations (p.D1690N and p.G1748D) in the SCN5A gene encoding cardiac Na(+) channels (Nav1.5) in a proband diagnosed with Brugada syndrome type 1. Furthermore, in the allele encoding the p.D1690N...
LA  - eng
M2  - 264
PB  - Elsevier
KW  - Brugada syndrome
KW  - Compound heterozygous mutation
KW  - Nav1.5 channels
KW  - SCN5A gene
TI  - p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient
TY  - journal article
VL  - 10
ER  -