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

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Gene Review:

MHS3 - Malignant hyperthermia susceptibility 3

Homo sapiens

Schleithoff, L. et al.

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Disease relevance of MHS3

CACNA2 encodes the alpha(2)/delta subunit of the human voltage-gated calcium channels and is located in the candidate region of malignant hyperthermia susceptibility type 3 (MHS3) [1].

High impact information on MHS3

The sequence analysis provides the basis for comprehensive mutation screening of CACNA2 for putative MHS3 individuals and patients with other channelopathies [1].

References

Genomic structure and functional expression of a human alpha(2)/delta calcium channel subunit gene (CACNA2). Schleithoff, L., Mehrke, G., Reutlinger, B., Lehmann-Horn, F. Genomics (1999) [Pubmed]

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