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Article

[Relationship between phenotype and genotype of ABCB11 deficiency in siblings and literature review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Jun 2018

Peng X R, Lu Y, Zhang M H, Li L T, Xie X B, Gong J Y, Wang J S

Abstract excerpt

Objective: To explore the relationship between genotype and phenotype of ABCB11 deficiency. Methods: Clinical data of two siblings with ABCB11 deficiency were retrospectively analyzed. Related literature from PubMed, CNKI and Wangfang databases was reviewed to date (up to August 2017) with 'ABCB11 gene' or 'bile salt export pump', 'cholestasis' and 'child' as key words. Results: The patients were siblings. Both...

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

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Source

Identifiers

PMID: 29886607
DOI: 10.3760/cma.j.issn.0578-1310.2018.06.007

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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