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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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MacLennan, D.H.

Discordance between phenotype and genotype in malignant hyperthermia.

Eight mutations in the ryanodine receptor gene on human chromosome 19q13.1 have been linked to malignant hyperthermia. Although 50% of malignant hyperthermia families are not linked to the ryanodine receptor gene, only single malignant hyperthermia families have been linked to alternative loci on chromosome 7q21-22 and on chromosome 3q13. 1. Problems in malignant hyperthermia linkage studies may arise from the inadequacy of the caffeine halothane contractures test for phenotypic diagnosis of malignant hyperthermia.[1]

References

Discordance between phenotype and genotype in malignant hyperthermia. MacLennan, D.H. Curr. Opin. Neurol. (1995) [Pubmed]

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