The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema

J Med Genet. 2003 Oct;40(10):e114. doi: 10.1136/jmg.40.10.e114.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Angioedema / blood
  • Angioedema / diagnosis
  • Angioedema / genetics*
  • Base Sequence
  • Complement C1 Inactivator Proteins
  • Complement C1 Inhibitor Protein
  • Exons
  • Haplotypes
  • Humans
  • Middle Aged
  • Mutation*
  • Pedigree
  • Polymorphism, Genetic
  • RNA Splicing
  • Sequence Deletion
  • Serpins / deficiency
  • Serpins / genetics*
  • Serpins / physiology

Substances

  • Complement C1 Inactivator Proteins
  • Complement C1 Inhibitor Protein
  • SERPING1 protein, human
  • Serpins

Associated data

  • OMIM/106100