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

Kimberly A. Mcallister, Melanie A. Baldwin, Arun K. Thukkani, Carol J. Gallione, Jonathan N. Berg, Mary E. Porteous, Allan E. Guttmacher, Douglas A. Marchuk (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

101 Citations (Scopus)
Original languageEnglish
Pages (from-to)1983-1985
Number of pages3
JournalHuman Molecular Genetics
Volume4
Issue number10
DOIs
Publication statusPublished - 1 Oct 1995

Keywords

  • Mutation
  • Hereditary hemorrhagic telangiectasia
  • Genes
  • Receptor function
  • Dominant-negative mutation

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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