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

Author:

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.

Publisher

Elsevier BV

Subject

Gastroenterology,Hepatology,Immunology and Allergy,Internal Medicine

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