Novel and Recurrent Mutations in the AIRE Gene of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS1) Patients

    September 2009 in “ Clinical genetics ”
    Muhammad Faiyaz‐Ul‐Haque, Bassam Bin‐Abbas, A Al‐Abdullatif … Syed Hassan Ejaz Zaidi
    Studysummary This study identified four novel and one recurrent mutation in the AIRE gene among Arab families with APS1, suggesting these contribute to the disorder.
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    Research cited in this study 2

    1. Alopecia Areata Masquerading as Frontal Fibrosing Alopecia Australasian journal of dermatology · 2006
    2. Role of the Autoimmune Regulator (AIRE) Gene in Alopecia Areata: Strong Association of a Potentially Functional AIRE Polymorphism With Alopecia Universalis Tissue Antigens · 2002