Using Exome Data to Identify Malignant Hyperthermia Susceptibility Mutations

BACKGROUND: Malignant hyperthermia susceptibility (MHS) is a life-threatening, inherited disorder of muscle calcium metabolism, triggered by anesthetics and depolarizing muscle relaxants. An unselected cohort was screened for MHS mutations using exome sequencing. Our aim was to pilot a strategy for...

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Autores principales: Gonsalves, Stephen G., Ng, David, Johnston, Jennifer J., Teer, Jamie K., Stenson, Peter D., Cooper, David N., Mullikin, James C., Biesecker, Leslie G.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4077354/
https://ncbi.nlm.nih.gov/pubmed/24195946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/ALN.0b013e3182a8a8e7
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