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

Hepatology. 2019 Oct;70(4):1484-1487. doi: 10.1002/hep.30783. Epub 2019 Jun 26.

Affiliations

¹ Epatocentro Ticino, Lugano, Switzerland.
² Institute of Liver Studies, MowatLabs, King's College Hospital, Denmark Hill, London, United Kingdom.
³ Institute of Liver Studies, King's College London, London, United Kingdom.
⁴ Cantonal Institute of Pathology, Locarno, Switzerland.
⁵ Division of Clinical Pathology, Geneva University Hospitals, Geneva, Switzerland.
⁶ SYNLAB Genetics, SYNLAB, Lausanne, Switzerland.
⁷ Pediatric Liver, GI and Nutrition Center, MowatLabs, King's College Hospital, Denmark Hill, London, United Kingdom.

PMID: 31127640
DOI: 10.1002/hep.30783

No abstract available

Publication types

Research Support, N.I.H., Extramural

MeSH terms

ATP Binding Cassette Transporter, Subfamily B / genetics*
Adult
Aged
Cause of Death
Cholestasis / diagnosis
Cholestasis / genetics*
Cholestasis / mortality
Female
Follow-Up Studies
Gene Deletion*
Genetic Predisposition to Disease / epidemiology*
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Liver Diseases / diagnosis
Liver Diseases / genetics*
Liver Diseases / mortality
Male
Middle Aged
Nerve Tissue Proteins / genetics*
Pedigree
Real-Time Polymerase Chain Reaction / methods
Risk Assessment
Survival Analysis

Substances

ATP Binding Cassette Transporter, Subfamily B
Intracellular Signaling Peptides and Proteins
Nerve Tissue Proteins
RUNDC3B protein, human
multidrug resistance protein 3

Grants and funding