Strong Similarities in Turkish and European Patients Diagnosed with APECED Syndrome

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Guclu M., CANGÜL H., ERSOY C.

TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM, vol.19, no.3, pp.89-92, 2015 (ESCI)

• Publication Type: Article / Article
• Volume: 19 Issue: 3
• Publication Date: 2015
• Doi Number: 10.4274/tjem.2987
• Journal Name: TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM
• Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
• Page Numbers: pp.89-92
• Bursa Uludag University Affiliated: Yes

Abstract

Purpose: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disease which is caused by mutations in the autoimmune regulator (AIRE) gene, mapping to 21q22.3. We aimed to evaluate AIRE gene mutations in patients with APECED syndrome and in their relatives.