Autoimmune Regulator-1 Messenger Ribonucleic Acid Analysis in a Novel Intronic Mutation and Two Additional Novel<i>AIRE</i>Gene Mutations in a Cohort of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients

Abstract excerpt

CONTEXT: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease associated with mutations in the AIRE gene. OBJECTIVE: Our objective was to investigate clinical and mutational characteristics of 12 Slovenian patients from 10 families with APECED. METHODS: Direct sequencing, restriction fragment length polymorphism, and amplification refractory mutation system...

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