Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides

Hum Mutat. 1998:Suppl 1:S278-83. doi: 10.1002/humu.1380110188.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • 5-Methylcytosine
  • Amino Acid Substitution
  • Base Sequence
  • Cytosine / analogs & derivatives
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Diabetes Insipidus / genetics*
  • Diabetes Insipidus / pathology
  • Family Health
  • Female
  • Genetic Linkage
  • Humans
  • Japan
  • Male
  • Mutation
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • Receptors, Vasopressin / genetics*
  • Sequence Deletion
  • X Chromosome / genetics*

Substances

  • Receptors, Vasopressin
  • 5-Methylcytosine
  • Cytosine
  • DNA