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Article

A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis.

Journal of gastroenterology - 1 Jun 2006

Nobili Valerio, Di Giandomenico Silvia, Francalanci Paola, Callea Francesco, Marcellini Matilde, Santorelli Filippo M

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) syndromes are characterized by defects in transporters of conjugated bile acids into the bile canaliculus. Three genes (ATP8B1, ABCB11, ABCB4) are associated with the different forms, but no easy genotype-phenotype correlations help in the prioritization for gene testing. We developed a denaturing high-performance liquid chromatography (DHPLC) method to screen...

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Topics

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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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Share to Cholestasis, Intrahepatic

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Source

Identifiers

PMID: 16868810
DOI: 10.1007/s00535-006-1816-z

Genes

ABCB11
ABCB4

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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