THE PRESENCE OF A TRUNCATING MUTATION IN ABCB11 ABROGATES THE BENEFICIAL EFFECT OF A RESIDUAL FUNCTION MUTATION ON THE COURSE OF SEVERE BILE SALT EXPORT PUMP DEFICIENCY

• Published in: HEPATOLOGY Vol. 72; p. 884A
• Main Authors: Felzen, A, van Wessel, D, Thompson, RJ, Gonzales, EM, Jankowska, I, Shneider, BL, Sokal, E, Grammatikopoulos, T, Kadaristiana, A, Jacquemin, E, Spraul, A, Lipinski, P, Czubkowski, P, Rock, N, Shagrani, M, Broering, D, Algoufi, T, Mazhar, N, Nicastro, E, Kelly, D, Nebbia, G, Arnell, H, Fischler, B, Hulscher, J, Serranti, D, Arikan, C, Polat, E, Debray, D, Lacaille, F, Goncalves, C, Hierro, L, Bartolo, GM, Mozer-Glassberg, Y, Azaz, A, Brecelj, J, Dezsofi, A, Calvo, PL, Grabhorn, E, Hartleif, S, Van der Woerd, W, Kamath, BM, Wang, JS, Li, LT, Durmaz, O, Kerkar, N, Jorgensen, MH, Fischer, RT, Jimenez-Rivera, C, Alam, S, Cananzi, M, Ruiz, M, Ferreira, CT, Ferrero, FO, Wang, H, Sency, V, Kim, KM, Chen, HL, Carvalho, E, Fabre, A, Bernabeu, JQ, Alonso, EM, Sokol, RJ, Suchy, FJ, Loomes, KM, McKiernan, PJ, Rosenthal, P, Turmelle, Y, Horslen, SP, Schwarz, KB, Bezerra, JA, Wang, KS, Hansen, BE, Verkade, HJ
• Format: Conference Proceeding
• Language: English
• Published: 2020
• Subjects: Medicin och hälsovetenskap
• ISSN: 0270-9139