
IndraLab
Statements
Mutated CACNA1S increases the amount of calcium(2+). 1 / 1
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"The discovery of single missense CACNA1S mutations in humans with HPP-1 which still allow expression of a full-length Ca v 1.1 alpha1 subunit protein suggested that changes in channel gating or channel expression on the cell surface may account for altered skeletal muscle function."