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AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.
Science. 2015 Jul 24;349(6246):436-40. doi: 10.1126/science.aaa1663.
Science. 2015.
PMID: 26206937
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.
Kim JH, Jarvik GP, Browning BL, Rajagopalan R, Gordon AS, Rieder MJ, Robertson PD, Nickerson DA, Fisher NA, Hopkins PM.
Kim JH, et al.
Anesthesiology. 2013 Nov;119(5):1054-65. doi: 10.1097/ALN.0b013e3182a8a998.
Anesthesiology. 2013.
PMID: 24013571
Free PMC article.
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