Article
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.
Anesthesiology - 1 Mar 2005
Sambuughin Nyamkhishig, Holley Heather, Muldoon Sheila, Brandom Barbara W, de Bantel Astrid M, Tobin Joseph R, Nelson Tom E, Goldfarb Lev G
Abstract excerpt
BACKGROUND: Malignant hyperthermia (MH) is a life-threatening and frequently fatal disorder triggered by commonly used anesthetics. MH susceptibility is a genetically determined predisposition to the development of MH. Mutations in the ryanodine receptor type 1 (RYR1) gene are the major cause of MH susceptibility. The authors sought to develop a reliable genetic screening strategy based on efficient and...
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