The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium
Resource Type
Journal
Authors
Felzen, Antonia ; van Wessel, Daan ; Thompson, Richard ; Gonzales, Emmanuel ; Jankowska, Irena ; Sokal, Etienne ; Grammatikopoulos, Tassos ; Kadaristiana, Agustina ; Jacquemin, Emmanuel ; Spraul, Anne ; Lipinski, Patryk ; Czubkowski, Piotr ; Rock, Nathalie ; Shagrani, Mohammad Ali ; Broering, Dieter Clemens ; Algoufi, Talal ; Mazhar, Nejat ; Nicastro, Emanuele ; Kelly, Deirdre ; Nebbia, Gabriella ; Arnell, Henrik ; Fischler, Bjo ; Hulscher, J. B. F. ; Serranti, Daniele ; Arikan, Cigdem ; Polat, Esra ; Debray, Dominique ; Lacaille, Florence ; Goncalves, Cristina ; Hierro, Loreto ; Munoz Bartolo, Gema ; Glassberg, Yael Mozer ; Azaz, Amer ; Brecelj, Jernej ; Dezsofi, Antal ; Calvo, Pier Luigi ; Grabhorn, Enke ; Sturm, Ekkehard ; van der Woerd, Wendy ; Kamath, Binita M. ; Wang, Jian-She ; Li Liting ; Durmaz, Ozlem ; Kerkar, Nanda ; Jorgensen, Marianne Horby ; Fischer, Ryan ; Jimenez-Rivera, Carolina ; Alam, Seema ; Cananzi, Mara ; Ruiz, Mathias ; Targa, Cristina ; Ordonez Ferrero, Felipe ; Wang, Heng ; Kim, Kyungmo ; Chen, Huey-Ling ; Carvalho, Elisa ; Hansen, Bettina ; Verkade, Henkjan
Source
JOURNAL OF HEPATOLOGY ; AUG 2020, 73 pS536-pS537, 2p. Supplement: 1
Subject
Language
English
ISSN
16000641