A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3

Progressive familial intrahepatic cholestasis type 3 is caused by biallelic variations of ABCB4, most often (≥70%) missense. In this study, we examined the effects of 12 missense variations identified in progressive familial intrahepatic cholestasis type 3 patients. We classified these variations on...

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Veröffentlicht in:	Hepatology (Baltimore, Md.) Md.), 2016-05, Vol.63 (5), p.1620-1631
Hauptverfasser:	Delaunay, Jean‐Louis, Durand‐Schneider, Anne‐Marie, Dossier, Claire, Falguières, Thomas, Gautherot, Julien, Davit‐Spraul, Anne, Aït‐Slimane, Tounsia, Housset, Chantal, Jacquemin, Emmanuel, Maurice, Michèle
Format:	Artikel
Sprache:	eng
Schlagworte:	ATP Binding Cassette Transporter, Sub-Family B - deficiency ATP Binding Cassette Transporter, Sub-Family B - genetics Cholestasis, Intrahepatic - genetics Cyclosporine - pharmacology Endoplasmic reticulum Gallbladder diseases HEK293 Cells Hep G2 Cells Human health and pathology Humans Hépatology and Gastroenterology Life Sciences Mutation Phosphatidylcholines - metabolism
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