A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.

@article{Delaunay2009AMM,
  title={A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.},
  author={J L Delaunay and Anne-Marie Durand-Schneider and Dani{\`e}le Delautier and Alegna Rada and Julien Gautherot and Emmanuel Jacquemin and Tounsia A{\"i}t-Slimane and Mich{\`e}le Maurice},
  journal={Hepatology},
  year={2009},
  volume={49 4},
  pages={1218-27}
}
UNLABELLED Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disease characterized by early onset of cholestasis that leads to cirrhosis and liver failure before adulthood. PFIC3 may be improved by chronic administration of ursodeoxycholic acid, although in many cases liver transplantation is the only therapy. The disease is caused by mutations of the adenosine triphosphate (ATP)-binding cassette, sub-family B, member 4 (ABCB4) [multidrug resistance 3 (MDR3)] gene… CONTINUE READING
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