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Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype

Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations result in a primary immunodeficiency (PID) characterized typically by chronic mucocutaneous candidiasis (CMC), but a wider phenotypic range is reported and remains unexplained from a pathophysiological point-...

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Detalles Bibliográficos
Autores principales: Giovannozzi, Simone, Lemmens, Veerle, Hendrix, Jelle, Gijsbers, Rik, Schrijvers, Rik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296103/
https://www.ncbi.nlm.nih.gov/pubmed/32582194
http://dx.doi.org/10.3389/fimmu.2020.01114