A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.
Hattori, Tetsuhisa
A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents. [electronic resource] - Cardiovascular research Mar 2012 - 666-73 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1755-3245
10.1093/cvr/cvr329 doi
Action Potentials--physiology
Animals
Cells, Cultured
Child
Electrocardiography
Female
Genetic Predisposition to Disease--genetics
HEK293 Cells
Heterozygote
Homozygote
Humans
Lown-Ganong-Levine Syndrome--genetics
Models, Animal
Mutation--genetics
Myocytes, Cardiac--cytology
Patch-Clamp Techniques
Pedigree
Potassium Channels, Inwardly Rectifying--genetics
Rats
Rats, Wistar
Transfection
A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents. [electronic resource] - Cardiovascular research Mar 2012 - 666-73 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1755-3245
10.1093/cvr/cvr329 doi
Action Potentials--physiology
Animals
Cells, Cultured
Child
Electrocardiography
Female
Genetic Predisposition to Disease--genetics
HEK293 Cells
Heterozygote
Homozygote
Humans
Lown-Ganong-Levine Syndrome--genetics
Models, Animal
Mutation--genetics
Myocytes, Cardiac--cytology
Patch-Clamp Techniques
Pedigree
Potassium Channels, Inwardly Rectifying--genetics
Rats
Rats, Wistar
Transfection