Characterization of V71M mutation in the aquaporin-2 gene causing nephrogenic diabetes insipidus

J Genet. 2008 Dec;87(3):279-82. doi: 10.1007/s12041-008-0044-0.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Substitution*
  • Aquaporin 2 / chemistry
  • Aquaporin 2 / genetics*
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Diabetes Insipidus, Nephrogenic / genetics*
  • Female
  • Humans
  • Male
  • Models, Molecular
  • Molecular Sequence Data
  • Mutant Proteins / chemistry
  • Mutant Proteins / genetics
  • Mutation / genetics*
  • Protein Structure, Secondary

Substances

  • Aquaporin 2
  • Mutant Proteins