A novel <i>ABCB11</i> variant in compound heterozygosity: BRIC2 or PFIC2?-Reference-Cited by-同舟云学术

A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?

Published:2023-12-22 Issue: Volume:12 Page:
ISSN:2052-0034
Container-title:Gastroenterology Report
language:en
Short-container-title:

Author:

Biolato Marco¹²^ORCID,Terranova Rosy²^ORCID,Viceconti Nicholas²^ORCID,Marrone Giuseppe¹²^ORCID,Miele Luca¹²^ORCID,Giustiniani Maria Cristina¹²^ORCID,Francalanci Paola³^ORCID,Gazzellone Annalisa²^ORCID,Bauleo Alessia⁴^ORCID,Falcone Elena⁴^ORCID,Genuardi Maurizio¹²^ORCID,Grieco Antonio¹²^ORCID

Affiliation:

1. Department of Medical and Surgical Sciences, CEMAD, Fondazione Policlinico Universitario Agostino Gemelli IRCCS , Rome, Italy

2. Department of Translational Medicine and Surgery, Catholic University of Sacred Heart , Rome, Italy

3. Department of Pathology, Children’s Hospital Bambino Gesù IRCCS , Rome, Italy

4. BIOGENET, Medical and Forensic Genetics Laboratory , Cosenza, Italy

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/gastro/article-pdf/doi/10.1093/gastro/goae022/57335065/goae022.pdf

Reference13 articles.

1. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11;van Mil;Gastroenterology,2004

2. The bile salt export pump (BSEP) in health and disease;Kubitz;Clin Res Hepatol Gastroenterol,2012

3. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history;Davit-Spraul;Hepatology,2010

4. Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial;Thompson;Lancet Gastroenterol Hepatol,2022