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A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle

BACKGROUND: Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was...

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Pubblicato in:BMC Genet
Autori principali: Agerholm, Jørgen S., McEvoy, Fintan J., Heegaard, Steffen, Charlier, Carole, Jagannathan, Vidhya, Drögemüller, Cord
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5541750/
https://ncbi.nlm.nih.gov/pubmed/28768473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12863-017-0541-3
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