Esra Polat
AuthID: R-00K-Y69
1
TITLE: Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
AUTHORS: 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; ...More
PUBLISHED: 2023, SOURCE: JHEP REPORTS, VOLUME: 5, ISSUE: 2
AUTHORS: 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; ...More
PUBLISHED: 2023, SOURCE: JHEP REPORTS, VOLUME: 5, ISSUE: 2
INDEXED IN: Scopus WOS