JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome
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چکیده
منابع مشابه
Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome.
Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510.
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2017
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2016.12.957