Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

Felzen, A (author)

van Wessel, DBE (author)

Gonzales, E (author)

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Thompson, RJ (author)

Jankowska, I (author)

Shneider, BL (author)

Sokal, E (author)

Grammatikopoulos, T (author)

Kadaristiana, A (author)

Jacquemin, E (author)

Spraul, A (author)

Lipinski, P (author)

Czubkowski, P (author)

Rock, N (author)

Shagrani, M (author)

Broering, D (author)

Nicastro, E (author)

Kelly, D (author)

Nebbia, G (author)

Arnell, H (author)

Karolinska Institutet

Fischler, B (author)

Karolinska Institutet

Hulscher, JBF (author)

Serranti, D (author)

Arikan, C (author)

Polat, E (author)

Debray, D (author)

Lacaille, F (author)

Goncalves, C (author)

Hierro, L (author)

Bartolo, GM (author)

Mozer-Glassberg, Y (author)

Azaz, A (author)

Brecelj, J (author)

Dezsofi, A (author)

Calvo, PL (author)

Grabhorn, E (author)

Hartleif, S (author)

van der Woerd, WJ (author)

Kamath, BM (author)

Wang, JS (author)

Li, LT (author)

Durmaz, O (author)

Kerkar, N (author)

Jorgensen, MH (author)

Fischer, R (author)

Jimenez-Rivera, C (author)

Alam, S (author)

Cananzi, M (author)

Laverdure, N (author)

Ferreira, CT (author)

Guerrero, FO (author)

Wang, H (author)

Sency, V (author)

Kim, KM (author)

Chen, HL (author)

de Carvalho, E (author)

Fabre, A (author)

Bernabeu, JQ (author)

Zellos, A (author)

Alonso, EM (author)

Sokol, RJ (author)

Suchy, FJ (author)

Loomes, KM (author)

McKiernan, PJ (author)

Rosenthal, P (author)

Turmelle, Y (author)

Horslen, S (author)

Schwarz, K (author)

Bezerra, JA (author)

Wang, K (author)

Hansen, BE (author)

Verkade, HJ (author)

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 (creator_code:org_t)

Elsevier BV, 2023

2023

English.

In: JHEP reports : innovation in hepatology. - : Elsevier BV. - 2589-5559. ; 5:2, s. 100626-

Related links:

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• Journal article (peer-reviewed)