Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.

Abstract excerpt

The bile salt export pump (BSEP) plays an important role in biliary secretion. Mutations in ABCB11, the gene encoding BSEP, induce progressive familial intrahepatic cholestasis type 2 (PFIC2), which presents with severe jaundice and liver dysfunction. A less severe phenotype, called benign recurrent intrahepatic cholestasis type 2, is also known. About 200 missense mutations in ABCB11 have been reported. However,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
• Share to Cholestasis, Intrahepatic