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Article

Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis.

The Journal of dermatology - 1 Jul 2018

Leng Yunji, Yan Lulu, Feng Hongquan, Chen Chen, Wang Shusen, Luo Yang, Cao Lihua

Abstract excerpt

Porokeratosis comprises heterogeneous keratinization disorders that are characterized by one or more atrophic patches surrounded by a ridge-like cornoid lamella. In this study, we evaluated seven families affected by porokeratosis and five sporadic patients of the disease in a Chinese population. We performed Sanger sequencing of exons and flanking intron-exon boundaries of mevalonate pathway genes (MVD, MVK,...

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Source

Identifiers

PMID: 29722423
DOI: 10.1111/1346-8138.14343

Genes

MVD
MVK
PMVK
FDPS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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