Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
Journal of Allergy and Clinical Immunology（2017）
摘要
The systematic alanine-scanning assay is a useful tool to estimate the GOF or LOF status and the effect of heterozygous missense mutations in STAT1 identified in patients with severe infectious diseases, including mycobacterial and fungal diseases.
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关键词
Signal transduction and activator of transcription 1,alanine scanning,chronic mucocutaneous candidiasis,Mendelian susceptibility to mycobacterial disease,reference database
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