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

Antonia Felzen; Daan B. E. Van Wessel; Emmanuel Gonzales; Richard J. Thompson; Irena Jankowska; Benjamin L. Shneider; Etienne Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Emmanuel Jacquemin; Anne Spraul; Patryk Lipinski; Piotr Czubkowski; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Emanuele Nicastro; Deirdre Kelly; Gabriella Nebbia; Henrik Arnell; Bjoern Fischler; Jan B. F. Hulscher; Daniele Serranti; Cigdem Arikan; Esra Polat; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema Munoz Bartolo; Yael Mozer-Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsofi; Pier Luigi Calvo; Enke Grabhorn; Steffen Hartleif; Wendy J. van Der Woerd; Binita M. Kamath; Jian-She Wang; Liting Li; Ozlem Durmaz; Nanda Kerkar; Marianne Horby Jorgensen; Ryan Fischer; Carolina Jimenez-Rivera; Seema Alam; Mara Cananzi; Noemie Laverdure; Cristina Targa Ferreira; Felipe Ordonez Guerrero; Heng Wang; Valerie Sency; Kyung Mo Kim; Huey-Ling Chen; Elisa De Carvalho; Alexandre Fabre; Jesus Quintero Bernabeu; Aglaia Zellos; Estella M. Alonso; Ronald J. Sokol; Frederick J. Suchy; Kathleen M. Loomes; Patrick J. Mckiernan; Philip Rosenthal; Yumirle Turmelle; Simon Horslen; Kathleen Schwarz; Jorge A. Bezerra; Kasper Wang; Bettina E. Hansen; Henkjan J. Verkade; Nat Course Prognosis Pfic Effe

doi:10.1016/j.jhepr.2022.100626

Journal Articles JHEP Reports Innovation in Hepatology Year : 2023

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

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Antonia Felzen

Function : Author

Daan B. E. Van Wessel

Function : Author

Emmanuel Gonzales

Function : Author

Physiopathogénèse et Traitement des Maladies du Foie

Richard J. Thompson

Function : Author

Irena Jankowska

Function : Author

Benjamin L. Shneider

Function : Author

Etienne Sokal

Function : Author

Institut de Recherche Expérimentale et Clinique

Tassos Grammatikopoulos

Function : Author

Agustina Kadaristiana

Function : Author

Emmanuel Jacquemin

Function : Author

Physiopathogénèse et Traitement des Maladies du Foie

Anne Spraul

Function : Author

Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]

Physiopathologie et traitement des maladies du foie

Patryk Lipinski

Function : Author

Piotr Czubkowski

Function : Author

Nathalie Rock

Function : Author

Mohammad Shagrani

Function : Author

Dieter Broering

Function : Author

Emanuele Nicastro

Function : Author

Azienda Ospedaliera Ospedale Papa Giovanni XXIII [Bergamo, Italy]

Deirdre Kelly

Function : Author

University of Birmingham [Birmingham]

Gabriella Nebbia

Function : Author

Henrik Arnell

Function : Author

Bjoern Fischler

Function : Author

Jan B. F. Hulscher

Function : Author

Daniele Serranti

Function : Author

Cigdem Arikan

Function : Author

Esra Polat

Function : Author

Dominique Debray

Function : Author

Hôpital Necker - Enfants Malades [AP-HP]

Florence Lacaille

Function : Author

Gastro-Entérologie, Hépatologie et Nutrition pédiatriques

Cristina Goncalves

Function : Author

Loreto Hierro

Function : Author

Gema Munoz Bartolo

Function : Author

Yael Mozer-Glassberg

Function : Author

Amer Azaz

Function : Author

Jernej Brecelj

Function : Author

Antal Dezsofi

Function : Author

Pier Luigi Calvo

Function : Author

Enke Grabhorn

Function : Author

Steffen Hartleif

Function : Author

Wendy J. van Der Woerd

Function : Author

Binita M. Kamath

Function : Author

Jian-She Wang

Function : Author

Liting Li

Function : Author

Ozlem Durmaz

Function : Author

Nanda Kerkar

Function : Author

Marianne Horby Jorgensen

Function : Author

Ryan Fischer

Function : Author

Carolina Jimenez-Rivera

Function : Author

Seema Alam

Function : Author

Mara Cananzi

Function : Author

Noemie Laverdure

Function : Author

Hôpital Femme Mère Enfant [CHU - HCL]

Cristina Targa Ferreira

Function : Author

Felipe Ordonez Guerrero

Function : Author

Heng Wang

Function : Author

DDC Clinic for Special Needs Children

Valerie Sency

Function : Author

Kyung Mo Kim

Function : Author

Microbial Resource Center

Huey-Ling Chen

Function : Author

Elisa De Carvalho

Function : Author

Alexandre Fabre

Function : Author

Université Paris 1 Panthéon-Sorbonne

Institut de Recherche juridique de la Sorbonne André Tunc

Jesus Quintero Bernabeu

Function : Author

Aglaia Zellos

Function : Author

Estella M. Alonso

Function : Author

Ronald J. Sokol

Function : Author

Frederick J. Suchy

Function : Author

Kathleen M. Loomes

Function : Author

Patrick J. Mckiernan

Function : Author

Philip Rosenthal

Function : Author

WorldWide Antimalarial Resistance Network Falciparum Haematology Study Group

Yumirle Turmelle

Function : Author

Simon Horslen

Function : Author

Kathleen Schwarz

Function : Author

Jorge A. Bezerra

Function : Author

Kasper Wang

Function : Author

Bettina E. Hansen

Function : Author

University of Toronto

Henkjan J. Verkade

Function : Author

Nat Course Prognosis Pfic Effe

Function : Author

Domains

Genetics

Valérie Gall : Connect in order to contact the contributor

https://amu.hal.science/hal-04254207

Submitted on : Monday, October 23, 2023-12:29:01 PM

Last modification on : Saturday, April 6, 2024-10:20:07 AM

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hal-04254207 , version 1 (23-10-2023)

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HAL Id : hal-04254207 , version 1
DOI : 10.1016/j.jhepr.2022.100626

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Antonia Felzen, Daan B. E. Van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, et al.. Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency. JHEP Reports Innovation in Hepatology, 2023, 5 (2), ⟨10.1016/j.jhepr.2022.100626⟩. ⟨hal-04254207⟩

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

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