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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565783/
https://www.ncbi.nlm.nih.gov/pubmed/32887425
http://dx.doi.org/10.3390/genes11091033