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

Details

Serval ID
serval:BIB_2B45E57668C1
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot.
Journal
International Journal of Cardiology
Author(s)
Bhuiyan Z.A., Alswaid A., Belfiore M., Al-Ghamdi S.S., Liang J., Schlaepffer J.
ISSN
1874-1754 (Electronic)
ISSN-L
0167-5273
Publication state
Published
Issued date
2014
Volume
172
Number
1
Pages
276-277
Language
english
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov't Publication Status: ppublish Document type : Letter
Keywords
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
Pubmed
Web of science
Create date
20/01/2015 19:26
Last modification date
20/08/2019 14:10
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