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Article

[Autoimmune regulator gene mutations in a Chinese family with autoimmune polyendocrinopathy syndrome type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2010

Liu Caihong, Shi Yan, Yin Huaiqing, Li Hong, Fan Shulan, Wu Shirun, Yuan Pingfei

Abstract excerpt

OBJECTIVE: To identify the mutation of the autoimmune regulator gene (AIRE) in a Chinese family with autoimmune polyendocrinopathy syndrome type I (APS-I). METHODS: The AIRE gene mutations were detected using PCR and direct DNA sequencing. Restriction enzyme analysis was used to confirm the mutat...

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Source

Identifiers

PMID: 20140861
DOI: 10.3760/cma.j.issn.1003-9406.2010.01.004

Genes

AIRE

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20140861-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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