Article
A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Oct 2020
Vossen A R J V, van Straalen K R, Swagemakers S M A, de Klein J E M M, Stubbs A P, Venter D J, van der Zee H H, van der Spek P J, Prens E P
Abstract excerpt
BACKGROUND: Mutations in the γ-secretase enzyme subunits have been described in multiple kindreds with familial hidradenitis suppurativa (HS). OBJECTIVE: In this study, we report a novel nicastrin (NCSTN) mutation causing HS in a Dutch family. We sought to explore the immunobiological function of NCSTN mutations using data of the Immunological Genome Project. METHODS: Blood samples of three affected and two...
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