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RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia.

Authors :
van den Bersselaar, L.R.
Greven, T.
Bulger, T.
Voermans, N.C.
van Petegem, F.
Schiemann, A.H.
Parker, R.
Burling, S.M.
Jungbluth, H.
Stowell, K.M.
Kamsteeg, E.J.
Snoeck, M.M.J.
Source :
BJA: The British Journal of Anaesthesia. Aug2021, Vol. 127 Issue 2, pe63-e65. 3p.
Publication Year :
2021

Details

Language :
English
ISSN :
00070912
Volume :
127
Issue :
2
Database :
Academic Search Index
Journal :
BJA: The British Journal of Anaesthesia
Publication Type :
Academic Journal
Accession number :
151385103
Full Text :
https://doi.org/10.1016/j.bja.2021.05.008