Autoimmune Polyendocrine Syndrome Type 1 in Norway: Phenotypic Variation, Autoantibodies, and Novel Mutations in the Autoimmune Regulator Gene | Zendy

Anette S. B. Wolff | Zendy; Martina M. Erichsen | Zendy; Anthony Meager | Zendy; Ng’weina Francis Magitta | Zendy; Anne Grethe Myhre | Zendy; Jens Bollerslev | Zendy; Kristian J. Fougner | Zendy; Kari Lima | Zendy; Per M. Knappskog | Zendy; Eystein S. Husebye | Zendy

Open Access

Autoimmune Polyendocrine Syndrome Type 1 in Norway: Phenotypic Variation, Autoantibodies, and Novel Mutations in the Autoimmune Regulator Gene

Author(s) -

Anette S. B. Wolff,

Martina M. Erichsen,

Anthony Meager,

Ng’weina Francis Magitta,

Anne Grethe Myhre,

Jens Bollerslev,

Kristian J. Fougner,

Kari Lima,

Per M. Knappskog,

Eystein S. Husebye

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-1873

Subject(s) - autoimmune regulator , autoantibody , phenotype , regulator , gene , autoimmunity , genetics , autoimmune disease , immunology , biology , antibody

The autoimmune polyendocrine syndrome type I (APS I) is a rare disease that previously was difficult to diagnose. Autoantibody screening as well as mutational analysis of the disease gene autoimmune regulator (AIRE) are important diagnostic tools for this life-threatening syndrome.

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