Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

Am J Med Genet A. 2015 Apr;167A(4):891-3. doi: 10.1002/ajmg.a.36946. Epub 2015 Mar 3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Alagille Syndrome / diagnosis*
  • Alagille Syndrome / genetics
  • Base Sequence
  • Calcium-Binding Proteins / genetics
  • Child
  • DNA Mutational Analysis
  • Exome
  • Female
  • Heterozygote
  • Humans
  • Intercellular Signaling Peptides and Proteins / genetics
  • Jagged-1 Protein
  • Male
  • Membrane Proteins / genetics
  • Pedigree
  • Receptor, Notch2 / genetics
  • Serrate-Jagged Proteins

Substances

  • Calcium-Binding Proteins
  • Intercellular Signaling Peptides and Proteins
  • JAG1 protein, human
  • Jagged-1 Protein
  • Membrane Proteins
  • NOTCH2 protein, human
  • Receptor, Notch2
  • Serrate-Jagged Proteins
  • Adenosine Triphosphatases
  • ATP8B1 protein, human