Li A, Peng Y, Taiclet LM, Tanzi RE. Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages. Hum Mol Genet. 2019 Apr 1;28(7):1173-1182. PubMed.

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Mutations

  1. PSEN1 P242Lfs