Clinical utility gene card for: progressive familial intrahepatic cholestasis type 1

Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.186. Epub 2013 Aug 28.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism
  • Cholestasis, Intrahepatic / diagnosis*
  • Cholestasis, Intrahepatic / genetics*
  • Chromosomes, Human, Pair 18 / genetics
  • Genetic Testing
  • Humans

Substances

  • Adenosine Triphosphatases
  • ATP8B1 protein, human

Supplementary concepts

  • Cholestasis, progressive familial intrahepatic 1