PFIC2 and ethnicity-specific bile salt export pump (BSEP, ABCB11) mutations: where do we go from here?

Liver Int. 2010 Jul;30(6):777-9. doi: 10.1111/j.1478-3231.2010.02227.x. Epub 2010 Mar 8.
No abstract available

Publication types

  • Editorial
  • Comment

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 11
  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • Alternative Splicing
  • Asian People / genetics*
  • China / epidemiology
  • Cholestasis, Intrahepatic / ethnology
  • Cholestasis, Intrahepatic / genetics*
  • Cholestasis, Intrahepatic / metabolism
  • Cholestasis, Intrahepatic / pathology
  • Cholestasis, Intrahepatic / therapy
  • Codon, Nonsense
  • Exons
  • Genetic Predisposition to Disease
  • Hospitals, Pediatric
  • Humans
  • Introns
  • Liver / metabolism*
  • Liver / pathology
  • Mutation*
  • Mutation, Missense
  • Phenotype
  • gamma-Glutamyltransferase / deficiency

Substances

  • ABCB11 protein, human
  • ATP Binding Cassette Transporter, Subfamily B, Member 11
  • ATP-Binding Cassette Transporters
  • Codon, Nonsense
  • gamma-Glutamyltransferase