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- Title
A novel missense mutation in the MVK gene is associated with disseminated superficial porokeratosis.
- Authors
Hui, Hai‐Zhen; Wang, Ying‐Jun; Cheng, Jia‐Rong; Mao, Han; Guo, Hong‐Xing; Shi, Bing‐Jun
- Abstract
(b) DNA sequence derived from the proband showing a heterozygous mutation MVK c.64G>A in exon 2 of the MVK gene. The MVK gene located on chromosome12q24.11 spans approximately 21 kb, consists of 10 coding exons and one noncoding exon (exon 1), and encodes the same 396-residue protein.[1] It contains four conserved functional domains and four key amino acids, playing a crucial role in the enzymatic activity of the protein.[4] The missense mutation is located in the first conserved region.
- Subjects
MISSENSE mutation; GENETIC mutation; NONSENSE mutation
- Publication
International Journal of Dermatology, 2023, Vol 62, Issue 4, pe223
- ISSN
0011-9059
- Publication type
Article
- DOI
10.1111/ijd.16493