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A p190BRhoGAP mutation and prolonged RhoB activation in fatal systemic capillary leak syndrome

We describe a fatal case of pediatric systemic capillary leak (Clarkson’s disease) associated with a point mutation in p190BRhoGAP. Dermal microvascular endothelial cells (ECs) isolated from this patient form monolayers with similar levels and distribution of junctional proteins and transendothelial...

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Detalles Bibliográficos
Autores principales:	Pierce, Richard W., Merola, Jonathan, Lavik, John Paul, Kluger, Martin S., Huttner, Anita, Khokha, Mustafa K., Pober, Jordan S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Rockefeller University Press 2017
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716031/ https://www.ncbi.nlm.nih.gov/pubmed/29097442 http://dx.doi.org/10.1084/jem.20162143

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