A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS.
Silke
S
Kauferstein
Nadine
N
Kiehne
Damir
D
Erkapic
Jörn
J
Schmidt
Christian W
CW
Hamm
Hansjürgen
H
Bratzke
Heinz-Friedrich
HF
Pitschner
Malte
M
Kuniss
Thomas
T
Neumann
D000293:Adolescent; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D019837:Ryanodine Receptor Calcium Release Channel / Q000737:chemistry / Q000235:genetics*
D019837:Ryanodine Receptor Calcium Release Channel