Ryanodine receptor 1
Definition:
References:
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[1]. Nicole Monnier, et al. Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. Hum Mutat. 2005 Nov;26(5):413-25. [Content Brief]
[2]. Andrew M Bellinger, et al. Remodeling of ryanodine receptor complex causes "leaky" channels: a molecular mechanism for decreased exercise capacity. Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2198-202. [Content Brief]
[3]. N Tilgen, et al. Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001 Dec 1;10(25):2879-87. [Content Brief]