Description:
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1; MHS1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Remarks |
Patient developed an episode of malignant hyperthermia during surgical anesthesia; normal serum creatine phosphokinase level; abnormal muscle biopsy contracture test |
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