Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome

Hum Genet. 2009 Aug;126(2):347.
No abstract available

MeSH terms

  • Alagille Syndrome / genetics*
  • Alleles
  • Base Sequence
  • Calcium-Binding Proteins / genetics*
  • Child, Preschool
  • Codon
  • DNA Mutational Analysis
  • Exons
  • Frameshift Mutation*
  • Heterozygote
  • Humans
  • Infant
  • Intercellular Signaling Peptides and Proteins / genetics*
  • Jagged-1 Protein
  • Liver Transplantation
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mutation*
  • Nucleotides / genetics*
  • Phenotype
  • Serrate-Jagged Proteins

Substances

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

Associated data

  • GENBANK/HI080019
  • GENBANK/HI080020