In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy

In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy

Abstract Background ABCB11 variations are responsible for a spectrum of rare liver diseases, including progressive familial intrahepatic cholestasis type 2 (PFIC2) and intrahepatic cholestasis of pregnancy (ICP). Current medical treatment of these conditions mostly relies on ursodeoxycholic acid wit...

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Autores principales: Elodie Mareux, Martine Lapalus, Amel Ben-Saad, Isabelle Callebaut, Thomas Falguières, Emmanuel Gonzales, Emmanuel Jacquemin
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
BSEP
Cholestasis
VX-770
Potentiator
ABC transporters superfamily
Paediatrics
Medicine
R
Acceso en línea:https://doaj.org/article/2224e9e12283412f8afa4558224ab794
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