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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

JHEP REPORTS（2023）

引用 4|浏览5
关键词
BSEP,PFIC2,compound heterozygosity,interruption of the enterohepatic circulation,genotype,phenotype
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