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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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6743793/
https://ncbi.nlm.nih.gov/pubmed/31479451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008378
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