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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Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: 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.
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2019
Teme:
Article
Online dostop: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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