TY  - JOUR
AU  - Cruz, Francisco Miguel
AU  - Macias, Alvaro
AU  - Moreno-Manuel, Ana I
AU  - Gutiérrez, Lilian K
AU  - Vera-Pedrosa, María Linarejos
AU  - Martinez-Carrascoso, Isabel
AU  - Sánchez Pérez, Patricia
AU  - Ruiz Robles, Juan Manuel
AU  - Bermúdez-Jiménez, Francisco J
AU  - Díaz-Agustín, Aitor
AU  - Martínez de Benito, Fernando
AU  - Arias-Santiago, Salvador
AU  - Braza-Boils, Aitana
AU  - Martín-Martínez, Mercedes
AU  - Gutierrez-Rodríguez, Marta
AU  - Bernal, Juan Antonio
AU  - Zorio, Esther
AU  - Jiménez-Jaimez, Juan
AU  - Jalife, Jose
PY  - 2024
DO  - 10.1161/CIRCRESAHA.123.323895
UR  - http://hdl.handle.net/20.500.12105/19523
AB  - BACKGROUNDAndersen-Tawil syndrome type 1 is a rare heritable disease caused by mutations in the gene coding the strong inwardly rectifying K+ channel Kir2.1. The extracellular Cys (cysteine)122-to-Cys154 disulfide bond in the channel structure is...
LA  - eng
PB  - Lippincott Williams & Wilkins (LWW)
KW  - Andersen Syndrome
KW  - Humans
KW  - Mice
KW  - Animals
KW  - Mutation
KW  - Myocytes, Cardiac
KW  - Cardiac Conduction System Disease
KW  - Disulfides
KW  - Phosphatidylinositols
TI  - Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.
TY  - journal article
ER  -