Atomic Mechanisms of Timothy Syndrome-Associated Mutations in Calcium Channel Cav1.2
Timothy syndrome (TS) is a very rare multisystem disorder almost exclusively associated with mutations G402S and G406R in helix IS6 of Cav1.2. Recently, mutations R518C/H in helix IIS0 of the voltage sensing domain II (VSD-II) were described as a cause of cardiac-only TS. The three mutations are kno...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Frontiers Media S.A.
2019-03-01
|
| Schriftenreihe: | Frontiers in Physiology |
| Schlagworte: | |
| Online-Zugang: | https://www.frontiersin.org/article/10.3389/fphys.2019.00335/full |
| Tags: |
Keine Tags, Fügen Sie das erste Tag hinzu!
|