Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function

Hum Mol Genet. 1995 Oct;4(10):1983-5. doi: 10.1093/hmg/4.10.1983.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Antigens, CD
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9*
  • Codon
  • Endoglin
  • Exons
  • Female
  • Frameshift Mutation
  • Genetic Linkage
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Pedigree
  • Point Mutation
  • Polymerase Chain Reaction
  • Receptors, Cell Surface
  • Restriction Mapping
  • Sequence Deletion
  • Telangiectasia, Hereditary Hemorrhagic / genetics*
  • Vascular Cell Adhesion Molecule-1 / genetics*
  • Vascular Cell Adhesion Molecule-1 / metabolism

Substances

  • Antigens, CD
  • Codon
  • ENG protein, human
  • Endoglin
  • Receptors, Cell Surface
  • Vascular Cell Adhesion Molecule-1