Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis

J Pediatr Gastroenterol Nutr. 2006 Jan;42(1):114-6. doi: 10.1097/01.mpg.0000184429.34001.68.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B
  • ATP Binding Cassette Transporter, Subfamily B, Member 11
  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • Cholestasis / congenital
  • Cholestasis / genetics*
  • Cholestasis / metabolism
  • Female
  • Gene Deletion
  • Genetic Predisposition to Disease*
  • Humans
  • Infant, Newborn
  • Mutation*
  • Risk Factors

Substances

  • ABCB11 protein, human
  • ATP Binding Cassette Transporter, Subfamily B
  • ATP Binding Cassette Transporter, Subfamily B, Member 11
  • ATP-Binding Cassette Transporters
  • multidrug resistance protein 3