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Article

The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease.

European journal of endocrinology - 1 Dec 2012

Gan Earn H, MacArthur Katie, Mitchell Anna L, Pearce Simon H S

Abstract excerpt

BACKGROUND: Autoimmune Addison's disease (AAD) is a rare condition with a complex genetic basis. A panel of rare and functionally defective genetic variants in the sialic acid acetylesterase (SIAE) gene has recently been implicated in several common autoimmune conditions. We performed a case-control study to determine whether these rare variants are associated with a rarer condition, AAD. METHOD: We analysed nine...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23011869
DOI: 10.1530/EJE-12-0579
PMCID: PMC3494867

Genes

SIAE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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