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    Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

    January 2010 in “ Hormone research in paediatrics
    Elizaveta Orlova, А. М. Букина, Э С Кузнецова … Ivan I. Dedov
    Studysummary This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 1

    1. Role of the Autoimmune Regulator (AIRE) Gene in Alopecia Areata: Strong Association of a Potentially Functional AIRE Polymorphism With Alopecia Universalis Tissue Antigens · 2002

    Related research 1

    1. Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations Hormone research in paediatrics · 2010