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Single-channel properties of skeletal muscle ryanodine receptor pore Δ(4923)FF(4924) in two brothers with a lethal form of fetal akinesia
Ryanodine receptor ion channels (RyR1s) release Ca(2+) ions from the sarcoplasmic reticulum to regulate skeletal muscle contraction. By whole-exome sequencing, we identified the heterozygous RYR1 variant c.14767_14772del resulting in the in-frame deletion p.(Phe4923_Phe4924del) in two brothers with...
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| Veröffentlicht in: | Cell Calcium |
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| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7216825/ https://ncbi.nlm.nih.gov/pubmed/32097819 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ceca.2020.102182 |
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