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Functional characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids

BACKGROUND: Colony‐stimulating factor 1 receptor is a tyrosine kinase transmembrane protein that mediates proliferation, differentiation, and survival of monocytes/macrophages and microglia. CSF1R gene mutations cause hereditary diffuse leukoencephalopathy with spheroids (HDLS), an autosomal‐dominan...

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Detalles Bibliográficos
Autores principales:	Kraya, Torsten, Quandt, Dagmar, Pfirrmann, Thorsten, Kindermann, Andrea, Lampe, Leonie, Schroeter, Matthias L., Kohlhase, Jürgen, Stoevesandt, Dietrich, Hoffmann, Katrin, Villavicencio‐Lorini, Pablo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465730/ https://www.ncbi.nlm.nih.gov/pubmed/30729751 http://dx.doi.org/10.1002/mgg3.595

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