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

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; Lipinski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Bjoern; Hulscher, Jan B. F.; Serranti, Daniele; Arikan, Cigdem; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Bartolo, Gema Munoz; Mozer-Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsofi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J.; Kamath, Binita M.; Wang, Jian-She; Li, Liting; Durmaz, Ozlem; Kerkar, Nanda; Jorgensen, Marianne Horby; Fischer, Ryan; Jimenez-Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordonez; 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.

dc.contributor.author	Hartleif, Steffen
dc.date.accessioned	2024-05-27T05:46:21Z
dc.date.available	2024-05-27T05:46:21Z
dc.date.issued	2023
dc.identifier.issn	2589-5559
dc.identifier.uri	http://hdl.handle.net/10900/153646
dc.language.iso	en	de_DE
dc.publisher	Amsterdam : Elsevier	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.jhepr.2022.100626	de_DE
dc.subject.ddc	610	de_DE
dc.title	Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230928000000_02612
utue.personen.roh	Felzen, Antonia
utue.personen.roh	van Wessel, Daan B. E.
utue.personen.roh	Gonzales, Emmanuel
utue.personen.roh	Thompson, Richard J.
utue.personen.roh	Jankowska, Irena
utue.personen.roh	Shneider, Benjamin L.
utue.personen.roh	Sokal, Etienne
utue.personen.roh	Grammatikopoulos, Tassos
utue.personen.roh	Kadaristiana, Agustina
utue.personen.roh	Jacquemin, Emmanuel
utue.personen.roh	Spraul, Anne
utue.personen.roh	Lipinski, Patryk
utue.personen.roh	Czubkowski, Piotr
utue.personen.roh	Rock, Nathalie
utue.personen.roh	Shagrani, Mohammad
utue.personen.roh	Broering, Dieter
utue.personen.roh	Nicastro, Emanuele
utue.personen.roh	Kelly, Deirdre
utue.personen.roh	Nebbia, Gabriella
utue.personen.roh	Arnell, Henrik
utue.personen.roh	Fischler, Bjoern
utue.personen.roh	Hulscher, Jan B. F.
utue.personen.roh	Serranti, Daniele
utue.personen.roh	Arikan, Cigdem
utue.personen.roh	Polat, Esra
utue.personen.roh	Debray, Dominique
utue.personen.roh	Lacaille, Florence
utue.personen.roh	Goncalves, Cristina
utue.personen.roh	Hierro, Loreto
utue.personen.roh	Bartolo, Gema Munoz
utue.personen.roh	Mozer-Glassberg, Yael
utue.personen.roh	Azaz, Amer
utue.personen.roh	Brecelj, Jernej
utue.personen.roh	Dezsofi, Antal
utue.personen.roh	Calvo, Pier Luigi
utue.personen.roh	Grabhorn, Enke
utue.personen.roh	Hartleif, Steffen
utue.personen.roh	van der Woerd, Wendy J.
utue.personen.roh	Kamath, Binita M.
utue.personen.roh	Wang, Jian-She
utue.personen.roh	Li, Liting
utue.personen.roh	Durmaz, Ozlem
utue.personen.roh	Kerkar, Nanda
utue.personen.roh	Jorgensen, Marianne Horby
utue.personen.roh	Fischer, Ryan
utue.personen.roh	Jimenez-Rivera, Carolina
utue.personen.roh	Alam, Seema
utue.personen.roh	Cananzi, Mara
utue.personen.roh	Laverdure, Noemie
utue.personen.roh	Ferreira, Cristina Targa
utue.personen.roh	Guerrero, Felipe Ordonez
utue.personen.roh	Wang, Heng
utue.personen.roh	Sency, Valerie
utue.personen.roh	Kim, Kyung Mo
utue.personen.roh	Chen, Huey-Ling
utue.personen.roh	de Carvalho, Elisa
utue.personen.roh	Fabre, Alexandre
utue.personen.roh	Bernabeu, Jesus Quintero
utue.personen.roh	Zellos, Aglaia
utue.personen.roh	Alonso, Estella M.
utue.personen.roh	Sokol, Ronald J.
utue.personen.roh	Suchy, Frederick J.
utue.personen.roh	Loomes, Kathleen M.
utue.personen.roh	McKiernan, Patrick J.
utue.personen.roh	Rosenthal, Philip
utue.personen.roh	Turmelle, Yumirle
utue.personen.roh	Horslen, Simon
utue.personen.roh	Schwarz, Kathleen
utue.personen.roh	Bezerra, Jorge A.
utue.personen.roh	Wang, Kasper
utue.personen.roh	Hansen, Bettina E.
utue.personen.roh	Verkade, Henkjan J.
dcterms.isPartOf.ZSTitelID	Jhep Reports	de_DE
dcterms.isPartOf.ZS-Issue	Article 100626	de_DE
dcterms.isPartOf.ZS-Volume	5 (2)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE