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A 1 bp deletion in HACE1 causes ataxia in Norwegian elkhound, black

A number of inherited ataxias is known in humans, with more than 250 loci implicated, most of which are included in human ataxia screening panels. Anecdotally, cases of ataxia in the Norwegian elkhound black have been known for the last 40 years. Affected puppies from three litters were clinically a...

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Detalles Bibliográficos
Autores principales: Bellamy, Kim K. L., Skedsmo, Fredrik S., Hultman, Josefin, Arnet, Ellen F., Guttersrud, Ole Albert, Skogmo, Hege Kippenes, Thoresen, Stein Istre, Espenes, Arild, Jäderlund, Karin Hultin, Lingaas, Frode
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8782517/
https://www.ncbi.nlm.nih.gov/pubmed/35061740
http://dx.doi.org/10.1371/journal.pone.0261845