IndraLab

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CACNA1S activates HOPPK. 1 / 1
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"In this first reported case of unilateral adrenal hyperplasia in concurrence with hypokalaemic periodic paralysis, we identified a novel dominant mutation, p.Arg528Cys, of CACNA1S causing HOPPK, which is the third known pathogenic mutation involving the 528th code of CACNA1S."