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Article

A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.

Journal of hepatology - 1 Jan 2006

Lam Ching-Wan, Cheung Ka-Ming, Tsui Man-Shan, Yan Matthew Shu-Ching, Lee Ching-Yin, Tong Sui-Fan

Abstract excerpt

We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2.

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Share to Adolescent
Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

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Source

Identifiers

PMID: 16290310
DOI: 10.1016/j.jhep.2005.09.013

Genes

ABCB11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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