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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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| Veröffentlicht in: | Front Physiol |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Frontiers Media S.A.
2019
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6449482/ https://ncbi.nlm.nih.gov/pubmed/30984024 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fphys.2019.00335 |
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