Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

J Med Genet. 2002 Jul;39(7):E39. doi: 10.1136/jmg.39.7.e39.
No abstract available

Publication types

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

MeSH terms

  • Activin Receptors, Type I / genetics*
  • Activin Receptors, Type II
  • Amino Acid Sequence / genetics
  • Animals
  • Chickens
  • DNA Mutational Analysis
  • Drosophila Proteins / genetics
  • Drosophila melanogaster / genetics
  • Female
  • Humans
  • Italy
  • Male
  • Mice
  • Molecular Sequence Data
  • Mutation / genetics*
  • Rats
  • Sequence Alignment
  • Telangiectasia, Hereditary Hemorrhagic / genetics*
  • Xenopus Proteins / genetics
  • Xenopus laevis / genetics

Substances

  • Drosophila Proteins
  • Xenopus Proteins
  • ACVRL1 protein, human
  • Activin Receptors, Type I
  • Activin Receptors, Type II
  • Acvrl1 protein, mouse

Associated data

  • RefSeq/NT_009609