Novel compound heterozygous ABCC2 variants in patients with Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy

Clin Genet. 2018 Nov;94(5):480-481. doi: 10.1111/cge.13420. Epub 2018 Aug 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cholestasis, Intrahepatic / diagnosis*
  • Cholestasis, Intrahepatic / genetics*
  • DNA Mutational Analysis
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Heterozygote*
  • Humans
  • Jaundice, Chronic Idiopathic / diagnosis*
  • Jaundice, Chronic Idiopathic / genetics*
  • Multidrug Resistance-Associated Protein 2
  • Multidrug Resistance-Associated Proteins / genetics*
  • Mutation*
  • Pedigree
  • Pregnancy
  • Pregnancy Complications / diagnosis*
  • Pregnancy Complications / genetics*

Substances

  • ABCC2 protein, human
  • Multidrug Resistance-Associated Protein 2
  • Multidrug Resistance-Associated Proteins

Supplementary concepts

  • Intrahepatic Cholestasis of Pregnancy