Gonadal mosaicism in hereditary angioedema

Clin Genet. 2006 Jul;70(1):83-5. doi: 10.1111/j.1399-0004.2006.00643.x.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Substitution
  • Angioedema / blood
  • Angioedema / genetics*
  • Base Sequence
  • Child, Preschool
  • Codon, Nonsense
  • Complement C1 Inhibitor Protein / genetics
  • DNA / genetics
  • Female
  • Humans
  • Infant
  • Male
  • Mosaicism*
  • Pedigree

Substances

  • Codon, Nonsense
  • Complement C1 Inhibitor Protein
  • DNA

Associated data

  • OMIM/106100
  • OMIM/606860