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Article

Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver - 1 Mar 2000

Colombo C, Okolicsanyi L, Strazzabosco M

Abstract excerpt

Recent progress in liver cell biology and molecular genetics revealed that a number of familial and congenital cholestatic disorders are caused by mutations in genes coding for hepatobiliary-transporter or for signalling proteins involved in morphogenesis. The status of the field is reviewed in the light of its impact on current diagnostic and clinical practice. The heterogeneous progressive familial intrahepatic...

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Identifiers

PMID: 10975791
DOI: 10.1016/s1590-8658(00)80403-x

Genes

JAG1

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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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