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Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia

BACKGROUND: Malignant hyperthermia (MH) is a dominantly inherited skeletal muscle disorder that can cause a fatal hypermetabolic reaction to general anaesthetics. The primary locus of MH (MHS1 locus) in humans is linked to chromosome 19q13.1, the position of the gene encoding the ryanodine receptor...

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Detalles Bibliográficos
Autores principales: Grievink, Hilbert, Stowell, Kathryn M
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895584/
https://www.ncbi.nlm.nih.gov/pubmed/20482855
http://dx.doi.org/10.1186/1750-1172-5-10