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Two novel mutations of the NCSTN gene in Chinese familial acne inverse

3 Jul 2012

Abstract excerpt

BACKGROUND: 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...

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PMID: 22759192
DOI: 10.1111/j.1468-3083.2012.04627.x

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