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A novel alteration of muscle chloride channel gating in myotonia levior
Mutations in the voltage-dependent skeletal muscle chloride channel, ClC-1, result in dominant or recessive myotonia congenita. The Q552R mutation causes a variant of dominant myotonia with a milder phenotype, myotonia levior. To characterise the functional properties of this mutation, homodimeric m...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Blackwell Science Inc
2002
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2290694/ https://ncbi.nlm.nih.gov/pubmed/12456816 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2002.027037 |
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