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Gain of function in the immune system caused by a ryanodine receptor 1 mutation
Mutations in RYR1, the gene encoding ryanodine receptor 1, are linked to a variety of neuromuscular disorders including malignant hyperthermia (MH), a pharmacogenetic hypermetabolic disease caused by dysregulation of Ca(2+) in skeletal muscle. RYR1 encodes a Ca(2+) channel that is predominantly expr...
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Huvudupphovsmän: | , , , , , , |
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Materialtyp: | Artigo |
Språk: | Inglês |
Publicerad: |
The Company of Biologists
2013
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Ämnen: | |
Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3730249/ https://ncbi.nlm.nih.gov/pubmed/23704352 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.130310 |
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