Two noval mutations of nicastrin gene in Chinese patients with Acne inversa

Summary

Background:  Acne inversa (AI), also called hidradenitis suppurativa, is a chronic inflammatory skin disease that usually presents after puberty with painful deep seated, inflamed lesions in the apocrine gland-bearing areas of the body, most commonly the axilla, inguinal and anogenital regions. To date, only one article testified that AI is caused by identified mutations of γ-secretase genes. γ-secretase is a transmembrane protease comprised of four essential protein subunits including presenilin (PSEN1), presenilin enhancer 2 (PSENEN), nicastrin (NCSTN), and anterior pharynx defective 1 (APH1).


Objectives:  To identify mutations of γ-secretase genes as ...

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