AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus


TURKKAHRAMAN D., Saglar E. , Karaduman T. , MERGEN H.

PITUITARY, cilt.18, sa.6, ss.898-904, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Konu: 6
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s11102-015-0668-z
  • Dergi Adı: PITUITARY
  • Sayfa Sayıları: ss.898-904

Özet

Background Familial central diabetes insipidus (DI), usually an autosomal dominant disorder, is caused by mutations in arginine vasopressin-neurophysin II (AVP-NPII) gene that leads to aberrant preprohormone processing and gradual destruction of AVP-secreting cells.