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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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Bibliografiska uppgifter
Huvudupphovsmän: Vukcevic, Mirko, Zorzato, Francesco, Keck, Simone, Tsakiris, Dimitrios A., Keiser, Jennifer, Maizels, Rick M., Treves, Susan
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Company of Biologists 2013
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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