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A mutation in the human ryanodine receptor gene associated with central core disease

โœ Scribed by Zhang, Yilin; Chen, Hai Shiene; Khanna, Vijay K.; De Leon, Stella; Phillips, Michael S.; Schappert, Keith; Britt, Beverley A.; Brownell, A. Keith W.; MacLennan, David H.


Book ID
109916895
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
462 KB
Volume
5
Category
Article
ISSN
1061-4036

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Ryanodine receptor mutations in malignan
โœ Tommie V. McCarthy; Kathleen A. Quane; Patrick J. Lynch ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 259 KB ๐Ÿ‘ 2 views

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that manifests in response to anesthetic triggering agents. Central core disease (CCD) is a myopathy closely associated with MH. Both MH and CCD are primarily disorders of calcium regulation in skeletal muscle. The ryanodin