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

Antonia Felzen
  • Function : Author
Daan B. E. Van Wessel
  • Function : Author
Richard J. Thompson
  • Function : Author
Irena Jankowska
  • Function : Author
Benjamin L. Shneider
  • Function : Author
Tassos Grammatikopoulos
  • Function : Author
Agustina Kadaristiana
  • Function : Author
Patryk Lipinski
  • Function : Author
Piotr Czubkowski
  • Function : Author
Nathalie Rock
  • Function : Author
Mohammad Shagrani
  • Function : Author
Dieter Broering
  • Function : Author
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
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
Cristina Targa Ferreira
  • Function : Author
Felipe Ordonez Guerrero
  • Function : Author
Valerie Sency
  • Function : Author
Huey-Ling Chen
  • Function : Author
Elisa De Carvalho
  • Function : Author
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
Yumirle Turmelle
  • Function : Author
Simon Horslen
  • Function : Author
Kathleen Schwarz
  • Function : Author
Jorge A. Bezerra
  • Function : Author
Kasper Wang
  • Function : Author
Henkjan J. Verkade
  • Function : Author
Nat Course Prognosis Pfic Effe
  • Function : Author

Domains

Genetics

Dates and versions

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

Identifiers

Cite

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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