A novel nicastrin mutation in a three‐generation Dutch family with hidradenitis suppurativa: a search for functional significance

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 NC...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acne, Rosacea and Hidradenitis Suppurativa
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7586943/
https://www.ncbi.nlm.nih.gov/pubmed/32078194
http://dx.doi.org/10.1111/jdv.16310

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