NBEAL2 is required for neutrophil and NK cell function and pathogen defense

Mutations in the human NBEAL2 gene cause gray platelet syndrome (GPS), a bleeding diathesis characterized by a lack of α granules in platelets. The functions of the NBEAL2 protein have not been explored outside platelet biology, but there are reports of increased frequency of infection and abnormal...

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Detalles Bibliográficos
Autores principales: Sowerby, John M., Thomas, David C., Clare, Simon, Espéli, Marion, Guerrero, Jose A., Hoenderdos, Kim, Harcourt, Katherine, Marsden, Morgan, Abdul-Karim, Juneid, Clement, Mathew, Antrobus, Robin, Umrania, Yagnesh, Barton, Philippa R., Flint, Shaun M., Juss, Jatinder K., Condliffe, Alison M., Lyons, Paul A., Humphreys, Ian R., Chilvers, Edwin R., Ouwehand, Willem H., Dougan, Gordon, Smith, Kenneth G.C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2017
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669559/
https://www.ncbi.nlm.nih.gov/pubmed/28783043
http://dx.doi.org/10.1172/JCI91684

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