Evidence for the founder effect of a novel ACVRL1 splice-site mutation in Hungarian hereditary hemorrhagic telangiectasia families

Clin Genet. 2016 Nov;90(5):466-467. doi: 10.1111/cge.12806. Epub 2016 Jun 12.
No abstract available

Publication types

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

MeSH terms

  • Activin Receptors, Type II / genetics*
  • Endoglin
  • Founder Effect*
  • Humans
  • Hungary
  • Mutation
  • Telangiectasia, Hereditary Hemorrhagic / genetics*

Substances

  • Endoglin
  • ACVRL1 protein, human
  • Activin Receptors, Type II