Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.
Laboratoire de Génétique Moléculaire, Lausanne, Switzerland. Electronic address: Z.A.Bhuiyan@chuv.ch.
Zahurul A
ZA
Bhuiyan
National Guard Hospital, Riyadh, Saudi Arabia.
Abdulrahman
A
Alswaid
Laboratoire de Cytogénétique Moléculaire et Conventionnelle, Service de Génétique Médicale, Lausanne, Switzerland.
Marco
M
Belfiore
Prince Sultan Cardiac Centre, Riyadh, Saudi Arabia.
Saleh S
SS
Al-Ghamdi
BGI-Shenzhen, Shenzhen, China.
Juno
J
Liang
Service de Cardiologie, CHUV, Lausanne, Switzerland.
Jürg
J
Schlaepffer
D000293:Adolescent; D002648:Child; D000072237:ERG1 Potassium Channel; D004562:Electrocardiography; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D035781:Siblings; D013771:Tetralogy of Fallot / Q000235:genetics* / Q000473:pathology / Q000601:surgery
D000072237:ERG1 Potassium Channel; D051638:Ether-A-Go-Go Potassium Channels; C000606913:KCNH2 protein, human
Exome sequencing; Genetics; Long QT syndrome; Tetralogy of Fallot; Unexpected findings