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

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 mutations and bioinformatic methods were used to predict the possible impact of the mutations on the structure and function...

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