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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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer International Publishing 2019
Konular:
Article
Online Erişim: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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