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Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.
Mutations in the skeletal muscle voltage-gated Na+ channel alpha-subunit have been found in patients with two distinct hereditary disorders of sarcolemmal excitation: hyperkalemic periodic paralysis (HYPP) and paramyotonia congenita (PC). Six of these mutations have been functionally expressed in a...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artikel |
| Sprache: | en |
| Veröffentlicht: |
1994
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC45524/ https://ncbi.nlm.nih.gov/pubmed/7809121 |
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