NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is a hereditary defect of motile cilia in humans and several domestic animal species. Typical clinical findings are chronic recurrent infections of the respiratory tract and fertility problems. We analyzed an Alaskan Malamute family, in which two out of six puppies w...

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Detalles Bibliográficos
Autores principales: Anderegg, Linda, Im Hof Gut, Michelle, Hetzel, Udo, Howerth, Elizabeth W., Leuthard, Fabienne, Kyöstilä, Kaisa, Lohi, Hannes, Pettitt, Louise, Mellersh, Cathryn, Minor, Katie M., Mickelson, James R., Batcher, Kevin, Bannasch, Danika, Jagannathan, Vidhya, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6743793/
https://www.ncbi.nlm.nih.gov/pubmed/31479451
http://dx.doi.org/10.1371/journal.pgen.1008378

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