Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
胆汁酸输出泵缺陷中截断突变 p.E297G 和 p.D482G 的基因型-表型关系
期刊:Jhep Reports
影响因子:7.5
doi:10.1016/j.jhepr.2022.100626
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
