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Article

Compound heterozygous mutations of ABCB11 responsible for benign recurrent intrahepatic cholestasis.

Journal of digestive diseases - 1 May 2015

Tai Yang, Xie Yan, Tang Cheng Wei

Abstract excerpt

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Topics

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Share to Adolescent
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Share to ATP Binding Cassette Transporter, Subfamily B, Member 11
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholestasis, Intrahepatic

Share to Genetic Predisposition to Disease

Share to Liver Function Tests

Share to Neoplasm Recurrence, Local

Source

Identifiers

PMID: 25565657
DOI: 10.1111/1751-2980.12227

Genes

ABCB11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Compound heterozygous mutations of ABCB11 responsible for benign recurrent intrahepatic cholestasis.PMID 25565657Read ↗

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11Semantic proximity Read ↗

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Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.Semantic proximity Read ↗

Novel compound heterozygous ABCC2 variants in patients with Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy.Semantic proximity Read ↗

Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.Semantic proximity Read ↗

A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1.Semantic proximity Read ↗

New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical ImplicationsSemantic proximity Read ↗

A Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism.Semantic proximity Read ↗

ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed.Semantic proximity Read ↗

Update on progressive familial intrahepatic cholestasis.Semantic proximity Read ↗

An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancySemantic proximity Read ↗

A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3: Like Mother, Like Daughter.Semantic proximity Read ↗

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