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Single-Amino-Acid Deletion in the RYR1 Gene, Associated with Malignant Hyperthermia Susceptibility and Unusual Contraction Phenotype
Malignant hyperthermia (MH) is an anesthetic-drug–induced, life-threatening hypermetabolic syndrome caused by abnormal calcium regulation in skeletal muscle. Often inherited as an autosomal dominant trait, MH has linkage to 30 different mutations in the RYR1 gene, which encodes a calcium-release–cha...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society of Human Genetics
2001
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1226035/ https://ncbi.nlm.nih.gov/pubmed/11389482 |
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