Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation
| Autor: | Ashley Paquin, BA, Dan Ye, MD, David J. Tester, BS, Jamie D. Kapplinger, BA, Michael T. Zimmermann, PhD, Michael J. Ackerman, MD, PhD |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | HeartRhythm Case Reports, Vol 4, Iss 2, Pp 37-44 (2018) |
| Druh dokumentu: | article |
| ISSN: | 2214-0271 |
| DOI: | 10.1016/j.hrcr.2017.04.006 |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|