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The C-terminal HCN4 variant P883R alters channel properties and acts as genetic modifier of atrial fibrillation and structural heart disease.
Weigl I, Geschwill P, Reiss M, Bruehl C, Draguhn A, Koenen M, Sedaghat-Hamedani F, Meder B, Thomas D, Katus HA, Schweizer PA. Weigl I, et al. Among authors: schweizer pa. Biochem Biophys Res Commun. 2019 Oct 29;519(1):141-147. doi: 10.1016/j.bbrc.2019.08.150. Epub 2019 Aug 31. Biochem Biophys Res Commun. 2019. PMID: 31481236
Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1.
Thomas D, Khalil M, Alter M, Schweizer PA, Karle CA, Wimmer AB, Licka M, Katus HA, Koenen M, Ulmer HE, Zehelein J. Thomas D, et al. Among authors: schweizer pa. J Mol Cell Cardiol. 2010 Jan;48(1):230-7. doi: 10.1016/j.yjmcc.2009.06.009. Epub 2009 Jun 21. J Mol Cell Cardiol. 2010. PMID: 19540844
145 results