Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).

doi:10.1007/s004390050891

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Article

Characterization of mutations in patients with autoimmune polyglandular syndrome type 1 (APS1).

Human genetics - 1 Dec 1998

Wang C Y, Davoodi-Semiromi A, Huang W, Connor E, Shi J D, She J X

Abstract excerpt

Autoimmune polyglandular syndrome type 1 (APS1), also known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), is an autosomal recessive disorder characterized by the failure of several endocrine glands as well as nonendocrine organs. The autoimmune regulator (AIRE) gene...

Topics

Female
Finland
Frameshift Mutation
Genetic Counseling
Haplotypes
Humans
Male
Mutagenesis, Insertional
Mutation
Polyendocrinopathies, Autoimmune
Polymerase Chain Reaction
Polymorphism, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splicing

Sequence Analysis, DNA

Sequence Deletion

Syndrome

Transcription Factors

United States

Source

Open in PubMed

Identifiers

PMID: 9921903
DOI: 10.1007/s004390050891

Genes

AIRE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9921903-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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