Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.

Background: To determine whether malignant hyperthermia (MH) susceptibility in a Canadian pedigree is associated with a mutation in the ryanodine receptor subtype 1 (RYR1) gene, the complete RYR1 transcript obtained from the leukocytes of one MH-susceptible family member was sequenced, using a newly...

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Publicado en:Anesthesiology Vol. 99; no. 2; pp. 297 - 303
Autores principales: Loke, Julian C P, Kraev, Natasha, Sharma, Parveen, Du, GuoGuang, Patel, Leena, Kraev, Alexander, MacLennan, David H
Formato: research Journal Article
Publicado: Lippincott Williams & Wilkins Aug2003
Acceso en línea:Ver este registro en EBSCOhost