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- Title
Two novel mutations of the NCSTN gene in Chinese familial acne inverse.
- Authors
Zhang, C; Wang, L; Chen, L; Ren, W; Mei, A; Chen, X; Deng, Y
- Abstract
Acne inversa (AI; MIM 142690), or hidradenitis suppurativa (HS), is a type of autosomal-dominant genodermatosis caused by mutations in γ-secretase. The complex of γ-secretase is a transmembrane protease that catalyses the cleavage of a set of membrane proteins and is comprised of four subunits encoded by four genes, including PSEN1, PSENEN, NCSTN and APH1. However, mutations associated with AI vary significantly, and it is important to define the specific mutation with a particular AI patient.
- Publication
Journal of the European Academy of Dermatology and Venereology : JEADV, 2013, Vol 27, Issue 12, p1571
- ISSN
1468-3083
- Publication type
Journal Article
- DOI
10.1111/j.1468-3083.2012.04627.x