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Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency

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Bibliographic Details
Published in:	Journal of clinical immunology 2018-08, Vol.38 (6), p.642-645
Main Authors:	Henrickson, Sarah E., Walter, Jolan E., Quinn, Colin, Kanakry, Jennifer A., Bardakjian, Tanya, Dimitrova, Dimana, Ujhazi, Boglarka, Csomos, Krisztian, Bosticardo, Marita, Dobbs, Kerry, Nasrallah, MacLean, Notarangelo, Luigi D., Holland, Steven M., Fadugba, Olajumoke
Format:	Article
Language:	English
Subjects:	Adult Age of Onset Biomarkers Biomedical and Life Sciences Biomedicine Biopsy Combined Modality Therapy DNA Mutational Analysis DNA-Binding Proteins - genetics Humans Immunologic Deficiency Syndromes - complications Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - therapy Immunology Infectious Diseases Internal Medicine Letter to Editor Male Medical Microbiology Muscular Diseases - complications Muscular Diseases - diagnosis Muscular Diseases - genetics Muscular Diseases - therapy Mutation Myopathy Nuclear Proteins - genetics Phenotype RAG2 protein Treatment Outcome
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