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Article

ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.

Journal of gastroenterology - 1 Mar 2016

Degiorgio Dario, Crosignani Andrea, Colombo Carla, Bordo Domenico, Zuin Massimo, Vassallo Emanuela, Syrén Marie-Louise, Coviello Domenico A, Battezzati Pier Maria

Abstract excerpt

BACKGROUND: The ABCB4 gene encodes the MDR3 protein. Mutations of this gene cause progressive familial intrahepatic cholestasis type 3 (PFIC3) in children, but their clinical relevance in adults remains ill defined. The study of a well-characterized adult patient series may contribute to refining the genetic data regarding cholangiopathies of unknown origin. Our aim was to evaluate the impact of ABCB4 mutations...

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Share to ATP Binding Cassette Transporter, Subfamily B

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholangitis, Sclerosing

Share to Cholestasis

Share to Cholestasis, Intrahepatic

Share to Chronic Disease

Share to Liver Cirrhosis, Biliary

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Source

Identifiers

PMID: 26324191
DOI: 10.1007/s00535-015-1110-z

Genes

ABCB4

Provenance

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ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.PMID 26324191Read ↗

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