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Mutated CACNA1D activates CAV1. 1 / 1
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"In the present study, we show that one CACNA1D mutation (p.A749G in Cav1.3 alpha1), which has been reported as 1 of 62 high risk conferring mutations in a whole-exome sequencing (WES) study of patients with sporadic autism and intellectual disability, induces a strong increase in Cav1.3 channel function."