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Article

Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.

The international journal of biochemistry & cell biology - 1 Aug 2017

Khabou Boudour, Durand-Schneider Anne-Marie, Delaunay Jean-Louis, Aït-Slimane Tounsia, Barbu Véronique, Fakhfakh Faiza, Housset Chantal, Maurice Michèle

Abstract excerpt

Genetic variations of the phosphatidylcholine transporter, ABCB4 cause several biliary diseases. The large number of reported variations makes it difficult to foresee a comprehensive study of each variation. To appreciate the reliability of in silico prediction programs, 1) we confronted them with the assessment in cell models of two ABCB4 variations (E528D and P1161S) identified in patients with low...

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

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Source

Identifiers

PMID: 28587926
DOI: 10.1016/j.biocel.2017.05.028

Genes

ABCB4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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