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Article

Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene.

The Journal of clinical endocrinology and metabolism - 1 Feb 2007

Wolff Anette S B, Erichsen Martina M, Meager Anthony, Magitta Ng'weina Francis, Myhre Anne Grethe, Bollerslev Jens, Fougner Kristian J, Lima Kari, Knappskog Per M, Husebye Eystein S

Abstract excerpt

CONTEXT: 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. OBJECTIVE: The objective of the study was to identify all patients with APS I in Norway and correlate their clinical...

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Source

Identifiers

PMID: 17118990
DOI: 10.1210/jc.2006-1873

Genes

AIRE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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