Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
Titel:
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
Auteur:
Felzen, Antonia van Wessel, Daan B.E. Gonzales, Emmanuel Thompson, Richard J. Jankowska, Irena Shneider, Benjamin L. Sokal, Etienne Grammatikopoulos, Tassos Kadaristiana, Agustina Jacquemin, Emmanuel Spraul, Anne Lipiński, Patryk Czubkowski, Piotr Rock, Nathalie Shagrani, Mohammad Broering, Dieter Nicastro, Emanuele Kelly, Deirdre Nebbia, Gabriella Arnell, Henrik Fischler, Björn Hulscher, Jan B.F. Serranti, Daniele Arikan, Cigdem Polat, Esra Debray, Dominique Lacaille, Florence Goncalves, Cristina Hierro, Loreto Muñoz Bartolo, Gema Mozer-Glassberg, Yael Azaz, Amer Brecelj, Jernej Dezsőfi, Antal Calvo, Pier Luigi Grabhorn, Enke Hartleif, Steffen van der Woerd, Wendy J. Kamath, Binita M. Wang, Jian-She Li, Liting Durmaz, Özlem Kerkar, Nanda Jørgensen, Marianne Hørby Fischer, Ryan Jimenez-Rivera, Carolina Alam, Seema Cananzi, Mara Laverdure, Noemie Ferreira, Cristina Targa Guerrero, Felipe Ordoñez Wang, Heng Sency, Valerie Kim, Kyung Mo Chen, Huey-Ling de Carvalho, Elisa Fabre, Alexandre Bernabeu, Jesus Quintero Zellos, Aglaia Alonso, Estella M. Sokol, Ronald J. Suchy, Frederick J. Loomes, Kathleen M. McKiernan, Patrick J. Rosenthal, Philip Turmelle, Yumirle Horslen, Simon Schwarz, Kathleen Bezerra, Jorge A. Wang, Kasper Hansen, Bettina E. Verkade, Henkjan J.