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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...
Autores principales: | Störk, Theresa, Nessler, Jasmin, Anderegg, Linda, Hünerfauth, Enrice, Schmutz, Isabelle, Jagannathan, Vidhya, Kyöstilä, Kaisa, Lohi, Hannes, Baumgärtner, Wolfgang, Tipold, Andrea, Leeb, Tosso |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6795476/ https://www.ncbi.nlm.nih.gov/pubmed/31584937 http://dx.doi.org/10.1371/journal.pgen.1008411 |
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