Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus

Adv Exp Med Biol. 1998:449:387-90. doi: 10.1007/978-1-4615-4871-3_49.
No abstract available

MeSH terms

  • Adolescent
  • Age of Onset
  • Amino Acid Substitution
  • Aquaporin 2
  • Aquaporin 6
  • Aquaporins / genetics*
  • Codon, Terminator
  • Diabetes Insipidus, Nephrogenic / genetics*
  • Diabetes Insipidus, Nephrogenic / urine
  • Female
  • Frameshift Mutation
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Receptors, Vasopressin / genetics*

Substances

  • AQP2 protein, human
  • Aquaporin 2
  • Aquaporin 6
  • Aquaporins
  • Codon, Terminator
  • Receptors, Vasopressin