Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.
(17/23)
(+info )A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.
(18/23)
(+info )NCX is an important determinant for premature ventricular activity in a drug-induced model of Andersen-Tawil syndrome.
(19/23)
(+info )Golgi export of the Kir2.1 channel is driven by a trafficking signal located within its tertiary structure.
(20/23)
(+info )Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.
(21/23)
(+info )Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome.
(22/23)
(+info )Phenotype variability in patients carrying KCNJ2 mutations.
(23/23)
(+info )