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Article

Cholestasis Familiaris Groenlandica/Byler-like disease in Greenland--a population study.

International journal of circumpolar health - 1 Jan 2004

Eiberg H, Nørgaard-Pedersen B, Nielsen I M

Abstract excerpt

OBJECTIVES: Cholestasis Familiaris Groenlandica (CFG, or progressive familiar intrahepatic cholestasis type 1 (PFIC1)) is a very common lethal recessive inherited disease in Greenland. A missense mutation, 1660G>A (asp554asn) in the gene ATP8B1 causes the disease (Klomp et al. 2000). STUDY DESIGN: A family study examining medical files from the period 1951-2003 from East Greenland resulted in 46 cases of PFIC1...

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PMID: 15736649
DOI: 10.3402/ijch.v63i0.17897

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