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Article

DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.

Journal of human genetics - 1 May 2010

Shapiro Rivka, Anikster Yair, Yardeni Tal, Korem Sigal, Hartman Korina, Shamir Raanan, Broide Efrat, Levine Arie, Bujanover Yoram, Bercovich Dani

Abstract excerpt

Progressive familial intrahepatic cholestasis (PFIC) is a group of rare heterogeneous autosomal recessive disorders characterized by metabolic defects in biliary proteins involved in the formation and transfer of bile acids in the liver. The genotype-phenotype correlation is not always clear. Mutations in the ATP8B1, BSEP and MDR3 genes have been associated with PFIC1, PFIC2 and PFIC3, respectively. This study...

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PMID: 20414253
DOI: 10.1038/jhg.2010.28

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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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