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...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Frontiers Media S.A.
2019-03-01
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| Colección: | Frontiers in Physiology |
| Materias: | |
| Acceso en línea: | https://www.frontiersin.org/article/10.3389/fphys.2019.00335/full |
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