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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Detaylı Bibliyografya
Asıl Yazarlar: Sambuughin, Nyamkhishig, McWilliams, Shona, de Bantel, Astrid, Sivakumar, Kumaraswamy, Nelson, Thomas E.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2001
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226035/
https://ncbi.nlm.nih.gov/pubmed/11389482
Etiketler: Etiketle
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