Article
Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Sept 2016
Li M, Li Z, Wang J, Ni C, Sun Z, Wilson N J, Zhang J, Chen F, Li X, Du X, Yu H, Zhang L, Smith F J D, Zhang G, Yao Z
Abstract excerpt
BACKGROUND: Porokeratosis (PK, MIM 175800) is a chronic autosomal dominant cutaneous keratinization disorder, which has a wide variety of clinical manifestations. OBJECTIVES: We analysed the molecular basis of 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population. METHODS: Genomic DNA was extracted from peripheral blood samples. Mutation screening was performed by...
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