Strong Similarities in Turkish and European Patients Diagnosed with APECED Syndrome


Guclu M., CANGÜL H., ERSOY C.

TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM, cilt.19, sa.3, ss.89-92, 2015 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 3
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4274/tjem.2987
  • Dergi Adı: TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.89-92
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.