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Article

Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver - 1 Jul 2011

Giovannoni Isabella, Santorelli Filippo Maria, Candusso Manila, Di Rocco Maja, Bellacchio Emanuele, Callea Francesco, Francalanci Paola

Abstract excerpt

BACKGROUND: Defects in ABCB4 have been found to cause progressive familial intrahepatic cholestasis type 3. Liver histology is important, but not specific, for diagnosis. Genotyping is conclusive. AIM: To determine the pathogenetic role of two novel ABCB4 mutations in two unrelated children from North Africa and South Asia. METHODS: In both children liver histology showed extensive ductular reaction with portal...

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Identifiers

PMID: 21514256
DOI: 10.1016/j.dld.2011.03.004

Genes

ABCB4

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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