Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.


Autoria(s): Bhuiyan Z.A.; Alswaid A.; Belfiore M.; Al-Ghamdi S.S.; Liang J.; Schlaepffer J.
Data(s)

2014

Identificador

http://serval.unil.ch/?id=serval:BIB_2B45E57668C1

isbn:1874-1754 (Electronic)

pmid:24462143

doi:10.1016/j.ijcard.2013.12.242

isiid:000331721600168

Idioma(s)

en

Fonte

International Journal of Cardiology, vol. 172, no. 1, pp. 276-277

Palavras-Chave #Adolescent; Child; Electrocardiography; Ether-A-Go-Go Potassium Channels/genetics; Exome/genetics; Female; Humans; Long QT Syndrome/diagnosis; Long QT Syndrome/genetics; Pedigree; Siblings; Tetralogy of Fallot/genetics; Tetralogy of Fallot/pathology
Tipo

info:eu-repo/semantics/article

article