Article
Gamma-secretase gene mutations in familial acne inversa.
Science (New York, N.Y.) - 19 Nov 2010
Wang Baoxi, Yang Wei, Wen Wen, Sun Jing, Su Bin, Liu Bo, Ma Donglai, Lv Dan, Wen Yaran, Qu Tao, Chen Min, Sun Miao, Shen Yan, Zhang Xue
Abstract excerpt
Acne inversa (AI), also known as hidradenitis suppurativa, is a chronic, recurrent, inflammatory disease of hair follicles that often runs in families. We studied six Chinese families with features of AI as well as additional skin lesions on back, face, nape, and waist and found independent loss-of-function mutations in PSENEN, PSEN1, or NCSTN, the genes encoding essential components of the γ-secretase...
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