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Article

A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

Nature genetics - 1 Mar 1998

Bull L N, van Eijk M J, Pawlikowska L, DeYoung J A, Juijn J A, Liao M, Klomp L W, Lomri N, Berger R, Scharschmidt B F, Knisely A S, Houwen R H, Freimer N B

Abstract excerpt

Cholestasis, or impaired bile flow, is an important but poorly understood manifestation of liver disease. Two clinically distinct forms of inherited cholestasis, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), were previously mapp...

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Identifiers

PMID: 9500542
DOI: 10.1038/ng0398-219

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9500542-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.PMID 9500542Read ↗

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Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.Semantic proximity Read ↗

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