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Inborn Errors of Human JAKs and STATs

Inborn errors of the genes encoding two of the four human JAKs (JAK3 and TYK2) and three of the six human STATs (STAT1, STAT3, and STAT5B) have been described. We review the disorders arising from mutations in these five genes, highlighting the way in which the molecular and cellular pathogenesis of...

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Autors principals: Casanova, Jean-Laurent, Holland, Steven M., Notarangelo, Luigi D.
Format: Artigo
Idioma:Inglês
Publicat: 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3334867/
https://ncbi.nlm.nih.gov/pubmed/22520845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.immuni.2012.03.016
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