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Article

Progressive familial intrahepatic cholestasis. Genetic basis and treatment.

Clinics in liver disease - 1 Nov 2000

Jacquemin E

Abstract excerpt

Major advances in the understanding of the molecular mechanisms of bile formation and genetic studies of children with chronic cholestasis uncovered the molecular basis of PFIC. Specific defects in the FIC1, BSEP, and MDR3 genes are responsible for distinct PFIC phenotypes. These findings have confirmed the autosomal recessive inheritance of the disease and now provide specific diagnostic tools for the...

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PMID: 11232355
DOI: 10.1016/s1089-3261(05)70139-2

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