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Article

Genetic cholestasis: lessons from the molecular physiology of bile formation.

Canadian journal of gastroenterology = Journal canadien de gastroenterologie - 1 Mar 2000

Jansen P L, Müller M

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic cholestatic liver diseases of early life. PFIC types 1 and 2 are characterized by cholestasis and a low to normal serum gamma-glutamyltransferase (GGT) activity, whereas in PFIC type 3, the serum GGT activity is elevated. PFIC types 1 and 2 occur due to mutations in loci at chromosome 18 and chromosome 2, respectively. The...

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Identifiers

PMID: 10758420
DOI: 10.1155/2000/514172

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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