TY  - JOUR
AU  - Cámara-Checa, Anabel
AU  - Perin, Francesca
AU  - Rubio-Alarcón, Marcos
AU  - Dago, María
AU  - Crespo-García, Teresa
AU  - Rapún, Josu
AU  - Marín, María
AU  - Cebrián, Jorge
AU  - Gómez, Ricardo
AU  - Bermúdez-Jiménez, Francisco
AU  - Monserrat, Lorenzo
AU  - Tamargo, Juan
AU  - Caballero, Ricardo
AU  - Jiménez-Jáimez, Juan
AU  - Delpón, Eva
PY  - 2023
DO  - 10.1073/pnas.2305135120
UR  - http://hdl.handle.net/20.500.12105/19276
AB  - In a family with inappropriate sinus tachycardia (IST), we identified a mutation (p.V240M) of the hyperpolarization-activated cyclic nucleotide-gated type 4 (HCN4) channel, which contributes to the pacemaker current (If) in human sinoatrial node...
LA  - eng
PB  - National Academy of Sciences
KW  - Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels
KW  - Cardiomyopathies
KW  - Adult
KW  - Humans
KW  - Tachycardia, Sinus
KW  - Potassium Channels
KW  - Ivabradine
KW  - Cyclic Nucleotide-Gated Cation Channels
KW  - Gain of Function Mutation
KW  - Muscle Proteins
KW  - Sinoatrial Node
TI  - A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.
TY  - journal article
ER  -