Yayınlanmış 1 Ocak 2015 | Sürüm v1
Dergi makalesi Açık

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

  • 1. Antalya Educ & Res Hosp, Dept Pediat Endocrinol, Antalya, Turkey
  • 2. Hacettepe Univ, Dept Biol, Fac Sci, Ankara, Turkey

Açıklama

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.

Dosyalar

bib-18b95eba-cbbb-4b7f-aaa5-b8c090cbbf4d.txt

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md5:9dfe06f9011886eb4b1b15edc771b915
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