Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli

Clin Exp Dermatol. 2017 Dec;42(8):910-911. doi: 10.1111/ced.13197. Epub 2017 Jul 24.

Authors

N J Song¹, J Luan², Z H Zhang²

Affiliations

¹ Department of Dermatology, Tongren Hospital, Shanghai Jiaotong University, 12 Wulumuqizhong Road, Shanghai, 200040, China.
² Department of Dermatology, Huashan Hospital, Shanghai Medical College of Fudan University, Shanghai, China.

PMID: 28736818
DOI: 10.1111/ced.13197

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Asian People / ethnology
Asian People / genetics
Exome Sequencing / methods
Humans
Male
Middle Aged
Mutation / genetics*
Phosphotransferases (Phosphate Group Acceptor) / genetics*
Porokeratosis / ethnology
Porokeratosis / genetics*
Porokeratosis / pathology

Substances

Phosphotransferases (Phosphate Group Acceptor)
phosphomevalonate kinase