An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.

Ítems similars

• Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus
  per: Kamsteeg, Erik-Jan, et al.
  Publicat: (2003)
• An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
  per: Kamsteeg, E J, et al.
  Publicat: (1999)
• Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology
  per: Bichet, Daniel G., et al.
  Publicat: (2012)
• Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.
  per: van Lieburg, A. F., et al.
  Publicat: (1994)
• Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus
  per: Kuwahara, Michio, et al.
  Publicat: (2001)