| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8261718 | Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease | 2011 | 7 Pages |
Abstract
⺠The KCNQ1 S277L mutation causes long QT syndrome 1. ⺠S277L subunits are non-functional. ⺠S277L suppresses wild type IKs in dominant-negative fashion. ⺠Modifying factors determine the individual clinical phenotype.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Ageing
Authors
Parwez Aidery, Jana Kisselbach, Patrick A. Schweizer, Rüdiger Becker, Hugo A. Katus, Dierk Thomas,