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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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190318/
https://www.ncbi.nlm.nih.gov/pubmed/25295861
http://dx.doi.org/10.1371/journal.pone.0110125