Article
A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Hepatology (Baltimore, Md.) - 1 Oct 2008
Gotthardt Daniel, Runz Heiko, Keitel Verena, Fischer Christine, Flechtenmacher Christa, Wirtenberger Michael, Weiss Karl Heinz, Imparato Sandra, Braun Annika, Hemminki Kari, Stremmel Wolfgang, Rüschendorf Franz, Stiehl Adolf, Kubitz Ralf, Burwinkel Barbara, Schirmacher Peter, Knisely A S, Zschocke Johannes, Sauer Peter
Abstract excerpt
UNLABELLED: Cholestatic liver disease (CLD) is a major cause of progressive liver damage and liver failure. Several forms of biliary cirrhosis are caused by mutations in specific genes. We sought to identify a genetic defect in a family with CLD impossible to assign to a distinct pathogenic entity. Clinical and histopathological characterization of the family members, microarray-based single-nucleotide...
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