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- Title
Updating and identifying a novel mutation in the PMVK gene in classic porokeratosis of Mibelli.
- Authors
Song, N. J.; Luan, J.; Zhang, Z. H.
- Abstract
The article reports on a novel mutation in phosphomevalonate kinase (PMVK) in a 50-year-old man with porokeratosis of Mibelli. Topics covered include the keratotic papules or plaques on the patient's face, trunk, buttock and extremities; the identification of the mutation in a Chinese family from Hunan province to which the patient belongs and impact on the Human Gene Mutation Database of PMVK mutations in porokeratosis.
- Subjects
MEVALONATE kinase; KERATOSIS; SKIN diseases; MEDICAL genetics; FAMILIAL diseases; GENETIC mutation
- Publication
Clinical & Experimental Dermatology, 2017, Vol 42, Issue 8, p910
- ISSN
0307-6938
- Publication type
Article
- DOI
10.1111/ced.13197