Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
Quane, K. A. ; Healy, J.M.S. ; Keating, K. E. ; Manning, B. M. ; Couch, F. J. ; Palmucci, L. M. ; Doriguzzi, C. ; Fagerlund, T. H. ; Berg, K. ; Ording, H. ; Bendixen, D. ; Mortier, W. ; Linz, U. ; Muller, C. R. ; McCarthy, T. V.
[s.l.] : Nature Publishing Group
Published 1993
[s.l.] : Nature Publishing Group
Published 1993
| ISSN: |
1546-1718
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|---|---|
| Source: |
Nature Archives 1869 - 2009
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| Topics: |
Biology
Medicine
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| Notes: |
[Auszug] Central core disease (CCD) of muscle is an inherited myopathy which is closely associated with malignant hyperthermia (MH) in humans. CCD has recently been shown to be tightly linked to the ryanodine receptor gene (RYR1) and mutations in this gene are known to be present in MH. Mutation screening ...
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| Type of Medium: |
Electronic Resource
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| URL: |