A family of hereditary long QT syndrome caused by Q738X HERG mutation.
Yasuda
Shioto
S
Hiramatsu
Shin-Ichi
S
Odashiro
Keita
K
Maruyama
Toru
T
Tsuji
Keiko
K
Horie
Minoru
M
D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D000072237:ERG1 Potassium Channel; D004562:Electrocardiography; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D012313:RNA / Q000235:genetics
D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human; D012313:RNA