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Article

Mutation analyses of North American APS-1 patients.

Human mutation - 1 Jan 1999

Heino M, Scott H S, Chen Q, Peterson P, Mäebpää U, Papasavvas M P, Mittaz L, Barras C, Rossier C, Chrousos G P, Stratakis C A, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis S E, Krohn K

Abstract excerpt

Autoimmune polyendocrinopathy syndrome type 1 (APS-1; MIM# 240300) is a rare autosomal recessively inherited disease characterised by destructive autoimmune diseases of endocrine glands. The gene responsible for APS-1, known as AIRE (for autoimmune regulator), was recently identified and contains motifs suggestive of a transcription regulator. To date, nine APS-1-associated mutations have been identified in the...

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Source

Identifiers

PMID: 9888391
DOI: 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6

Genes

AIRE

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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