Congenital Hepatic Fibrosis in the Franches-Montagnes Horse Is Associated with the Polycystic Kidney and Hepatic Disease 1 (PKHD1) Gene

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 homozygosi...

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Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2014
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4190318/
https://ncbi.nlm.nih.gov/pubmed/25295861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0110125
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