Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1

Am J Med Genet A. 2008 Apr 1;146A(7):937-9. doi: 10.1002/ajmg.a.32225.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alagille Syndrome / genetics*
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Calcium-Binding Proteins / genetics*
  • Female
  • Frameshift Mutation*
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Jagged-1 Protein
  • Male
  • Membrane Proteins / genetics*
  • Pedigree
  • Receptor, Notch2 / genetics*
  • Repressor Proteins / genetics*
  • Serrate-Jagged Proteins

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • Calcium-Binding Proteins
  • HEY2 protein, human
  • Intercellular Signaling Peptides and Proteins
  • JAG1 protein, human
  • Jagged-1 Protein
  • Membrane Proteins
  • NOTCH2 protein, human
  • Receptor, Notch2
  • Repressor Proteins
  • Serrate-Jagged Proteins