Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

Human actin-related protein 2/3 complex (Arp2/3), required for actin filament branching, has two ARPC1 component isoforms, with ARPC1B prominently expressed in blood cells. Here we show in a child with microthrombocytopenia, eosinophilia and inflammatory disease, a homozygous frameshift mutation in...

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Publié dans:Nat Commun
Auteurs principaux: Kahr, Walter H. A., Pluthero, Fred G., Elkadri, Abdul, Warner, Neil, Drobac, Marko, Chen, Chang Hua, Lo, Richard W., Li, Ling, Li, Ren, Li, Qi, Thoeni, Cornelia, Pan, Jie, Leung, Gabriella, Lara-Corrales, Irene, Murchie, Ryan, Cutz, Ernest, Laxer, Ronald M., Upton, Julia, Roifman, Chaim M., Yeung, Rae S. M., Brumell, John H, Muise, Aleixo M
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2017
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5382316/
https://ncbi.nlm.nih.gov/pubmed/28368018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms14816
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