TSEN54 missense variant in Standard Schnauzers with leukodystrophy

We report a hereditary leukodystrophy in Standard Schnauzer puppies. Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling, proprioceptive deficits, seizures and ventral...

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Vydáno v:PLoS Genet
Hlavní autoři: Störk, Theresa, Nessler, Jasmin, Anderegg, Linda, Hünerfauth, Enrice, Schmutz, Isabelle, Jagannathan, Vidhya, Kyöstilä, Kaisa, Lohi, Hannes, Baumgärtner, Wolfgang, Tipold, Andrea, Leeb, Tosso
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2019
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6795476/
https://ncbi.nlm.nih.gov/pubmed/31584937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008411
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