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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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保存先:
書誌詳細
主要な著者: Boisson-Dupuis, Stephanie, Kong, Xiao-Fei, Okada, Satoshi, Cypowyj, Sophie, Puel, Anne, Abel, Laurent, Casanova, Jean-Laurent
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier Ltd. 2012
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3477860/
https://ncbi.nlm.nih.gov/pubmed/22651901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.coi.2012.04.011
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