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Article

Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.

World journal of gastroenterology - 14 Jan 2015

Sun Hao-Zhe, Shi Hong, Zhang Shun-Cai, Shen Xi-Zhong

Abstract excerpt

Genotyping is conclusive for the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC3). Here we report a Chinese patient of PFIC3 with compound mutations in the ABCB4 gene. Liver biopsy was performed on a 17-year-old male patient with intrahepatic cholestasis of unknown etiology. Liver histology findings are indicative of intrahepatic cholestasis with extensive fibrosis. Genotyping revealed...

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATP Binding Cassette Transporter, Subfamily B

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Source

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Identifiers

PMID: 25593501
DOI: 10.3748/wjg.v21.i2.699
PMCID: PMC4292307

Genes

ABCB4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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