| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8930310 | British Journal of Anaesthesia | 2017 | 11 Pages |
Abstract
Segregation analysis is of limited value in assessing pathogenicity of RYR1 variants in malignant hyperthermia. Functional analyses in HEK293 cells provided evidence to support the use of p.R2336H, p.R2355W, p.E3104K, p.G3990V and p.V4849I for diagnostic purposes but not p.D3986E.
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Authors
A. Merritt, P. Booms, M.-A. Shaw, D.M. Miller, C. Daly, J.G. Bilmen, K.M. Stowell, P.D. Allen, D.S. Steele, P.M. Hopkins,