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

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 with limite...

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Detalles Bibliográficos
Autores principales: Mareux, Elodie, Lapalus, Martine, Ben-Saad, Amel, Callebaut, Isabelle, Falguières, Thomas, Gonzales, Emmanuel, Jacquemin, Emmanuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600881/
https://www.ncbi.nlm.nih.gov/pubmed/34794484
http://dx.doi.org/10.1186/s13023-021-02125-4

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