Paternal uniparental isodisomy of chromo
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Carolina Prando; StΓ©phanie Boisson-Dupuis; Audrey V. Grant; Xiao-Fei Kong; Jacin
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Article
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2010
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John Wiley and Sons
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English
β 219 KB
## Abstract Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFNβΞ³R1) deficiency is a genetic etiology of MSMD. We describe the clinical and gene