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Pharmacological premature termination codon readthrough of ABCB11 in bile salt export pump deficiency: an in vitro study

Archive ouverte | Amzal, Rachida | CCSD

International audience. BACKGROUND & AIMS: Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe hepatocellular cholestasis due to biallelic mutations in ABCB11 encoding the canalicular bile salt ...

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators

Archive ouverte | Mareux, Elodie | CCSD

International audience. ABCB11 is responsible for biliary bile acid secretion at the canalicular membrane of hepatocytes. Variations in the ABCB11 gene cause a spectrum of rare liver diseases. The most severe form i...

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators

Archive ouverte | Mareux, Elodie | CCSD

International audience. ABCB11 is responsible for biliary bile acid secretion at the canalicular membrane of hepatocytes. Variations in the ABCB11 gene cause a spectrum of rare liver diseases. The most severe form i...

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