Articles with "fibrocystin" as a keyword



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A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.

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Published in 2017 at "Kidney international"

DOI: 10.1016/j.kint.2017.04.027

Abstract: Autosomal recessive polycystic kidney disease (OMIM 263200) is a serious condition of the kidney and liver caused by mutations in a single gene, PKHD1. This geneĀ encodes fibrocystin/polyductin (FPC, PD1), a large protein shown by inĀ vitro… read more here.

Keywords: recessive polycystic; model; polycystic kidney; autosomal recessive ... See more keywords