Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Oct;70(4):1484-1487.
doi: 10.1002/hep.30783. Epub 2019 Jun 26.

A Heterozygous ABCB4, RUNDC3B, and ABCB1 Deletion Associated With Severe Cholestatic Liver Disease in Adulthood

Benedetta Terziroli Beretta-Piccoli  1   2 , Richard Thompson  3 , Pierre Foskett  2 , Andreas Cerny  1 , Elisabetta Merlo  4 , Diego Vergani  2 , Anne-Laure Rougemont  5 , Isabelle Moix  6 , Giorgina Mieli-Vergani  7 , Michael Morris  6
Affiliations

A Heterozygous ABCB4, RUNDC3B, and ABCB1 Deletion Associated With Severe Cholestatic Liver Disease in Adulthood

Benedetta Terziroli Beretta-Piccoli et al. Hepatology. 2019 Oct.
No abstract available

PubMed Disclaimer

References

    1. Pasmant E, Goussard P, Baranes L, Laurendeau I, Quentin S, Ponsot P, et al. First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis. Eur J Hum Genet 2012;20:277-282.
    1. Fombuena B, Ampuero J, Álvarez L, Aparcero R, Llorca R, Millán R, et al. LPAC syndrome associated with deletion of the full exon 4 in a ABCB4 genetic mutation in a patient with hepatitis C. Rev Espanola Enfermedades Dig Organo Soc Espanola Patol Dig 2014;106:544-547.

Publication types

MeSH terms

Substances