IndraLab

Statements


DHCR7 activates KCNMA1. 2 / 2
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"According to the crude data from exome sequencing, patient P has a homozygous mutation, in the DHCR7 gene, known to cause SLO."

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"SLO is caused by mutations in the DHCR7 gene which encodes 7-dehydrocholesterol reductase, the last enzyme of cholesterol biosynthesis pathway."