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Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

The genetic dissection of various human infectious diseases has led to the definition of inborn errors of human STAT1 immunity of four types, including (i) autosomal recessive (AR) complete STAT1 deficiency, (ii) AR partial STAT1 deficiency, (iii) autosomal dominant (AD) STAT1 deficiency, and (iv) A...

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Detalles Bibliográficos
Autores principales: Boisson-Dupuis, Stephanie, Kong, Xiao-Fei, Okada, Satoshi, Cypowyj, Sophie, Puel, Anne, Abel, Laurent, Casanova, Jean-Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Ltd. 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477860/
https://www.ncbi.nlm.nih.gov/pubmed/22651901
http://dx.doi.org/10.1016/j.coi.2012.04.011