Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

Clinical, pathological, and genetic findings of a primary hereditary ataxia found in a Malinois dog family are described and compared with its human counterpart. Based on the family history and the phenotype/genotype relationships already described in humans and dogs, a causal variant was expected t...

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Bibliografische gegevens
Gepubliceerd in:Eur J Hum Genet
Hoofdauteurs: Van Poucke, Mario, Stee, Kimberley, Sonck, Laurien, Stock, Emmelie, Bosseler, Leslie, Van Dorpe, Jo, Van Nieuwerburgh, Filip, Deforce, Dieter, Peelman, Luc J., Van Ham, Luc, Bhatti, Sofie F. M., Broeckx, Bart J. G.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer International Publishing 2019
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6777613/
https://ncbi.nlm.nih.gov/pubmed/31160700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0432-3
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