Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

Clin Genet. 2011 Dec;80(6):591-4. doi: 10.1111/j.1399-0004.2011.01710.x.
No abstract available

Publication types

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

MeSH terms

  • Calcium-Binding Proteins / genetics*
  • Female
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Jagged-1 Protein
  • Male
  • Membrane Proteins / genetics*
  • Mutation, Missense
  • Serrate-Jagged Proteins
  • Tetralogy of Fallot / genetics*
  • Tetralogy of Fallot / pathology

Substances

  • Calcium-Binding Proteins
  • Intercellular Signaling Peptides and Proteins
  • JAG1 protein, human
  • Jagged-1 Protein
  • Membrane Proteins
  • Serrate-Jagged Proteins