Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia

BACKGROUND: The molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% of patients. SEC61A1 encodes the α-subunit of the Sec61 complex, which governs endoplasmic reticulum protein transport and passive calcium leakage. Recently, mutations in SEC61A1 were reported to be patho...

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發表在:J Allergy Clin Immunol
Main Authors: Van Nieuwenhove, Erika, Barber, John S., Neumann, Julika, Smeets, Elien, Willemsen, Mathijs, Pasciuto, Emanuela, Prezzemolo, Teresa, Lagou, Vasiliki, Seldeslachts, Laura, Malengier-Devlies, Bert, Metzemaekers, Mieke, Haßdenteufel, Sarah, Kerstens, Axelle, van der Kant, Rob, Rousseau, Frederic, Schymkowitz, Joost, Di Marino, Daniele, Lang, Sven, Zimmermann, Richard, Schlenner, Susan, Munck, Sebastian, Proost, Paul, Matthys, Patrick, Devalck, Christine, Boeckx, Nancy, Claessens, Frank, Wouters, Carine, Humblet-Baron, Stephanie, Meyts, Isabelle, Liston, Adrian
格式: Artigo
語言:Inglês
出版: Mosby 2020
主題:
Translational and Clinical Immunology
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7649975/
https://ncbi.nlm.nih.gov/pubmed/32325141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2020.03.034
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