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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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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | 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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