A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog

Dogs provide highly valuable models of human disease due to the similarity in phenotype presentation and the ease of genetic analysis. Seven Saluki puppies were investigated for neurological abnormalities including seizures and altered behavior. Magnetic resonance imaging showed a diffuse, marked re...

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Publicat a:Genes (Basel)
Autors principals: Vernau, Karen M., Struys, Eduard, Letko, Anna, Woolard, Kevin D., Aguilar, Miriam, Brown, Emily A., Cissell, Derek D., Dickinson, Peter J., Shelton, G. Diane, Broome, Michael R., Gibson, K. Michael, Pearl, Phillip L., König, Florian, Van Winkle, Thomas J., O’Brien, Dennis, Roos, B., Matiasek, Kaspar, Jagannathan, Vidhya, Drögemüller, Cord, Mansour, Tamer A., Brown, C. Titus, Bannasch, Danika L.
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7565783/
https://ncbi.nlm.nih.gov/pubmed/32887425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11091033
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