Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis
2012
Xue-Jun Zhang, Jun Wang and colleagues identify mutations in MVK in disseminated superficial actinic porokeratosis, a disorder characterized by defects in epidermal keratinization. MVK encodes mevalonate kinase, an enzyme involved in the biosynthesis of cholesterol and isoprenoids.
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