A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1

Pediatr Int. 2011 Feb;53(1):107-10. doi: 10.1111/j.1442-200X.2010.03238.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Child, Preschool
  • Cholestasis, Intrahepatic / diagnosis
  • Cholestasis, Intrahepatic / genetics*
  • Female
  • Heterozygote*
  • Humans
  • Mutation*

Substances

  • Adenosine Triphosphatases
  • ATP8B1 protein, human

Supplementary concepts

  • Cholestasis, progressive familial intrahepatic 1