Article
Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene.
PloS one - 1 Jan 2014
Drögemüller Michaela, Jagannathan Vidhya, Welle Monika M, Graubner Claudia, Straub Reto, Gerber Vinzenz, Burger Dominik, Signer-Hasler Heidi, Poncet Pierre-André, Klopfenstein Stéphane, von Niederhäusern Ruedi, Tetens Jens, Thaller Georg, Rieder Stefan, Drögemüller Cord, Leeb Tosso
Abstract excerpt
Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed. We performed a genome-wide association study with 5 cases and 12 controls and detected an association on chromosome 20. Subsequent homozygosity mapping defined a critical interval of 952 kb harboring 10 annotated genes and loci including the polycystic...
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