IndraLab

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Mutated CACNA1S increases the amount of calcium(2+). 2 / 2

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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."

20213496

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reach

"Indeed, heterologous expression experiments have revealed that this MHS5 mutation of Ca V 1.1 enhances calcium release in skeletal muscle cells [11] ."

17034879

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IndraLab

Statements

Mutated CACNA1S increases the amount of calcium(2+). 2 / 2

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