Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog

Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans. A 15-month-old Boston Terrier presented with clinical signs consistent with lysosomal storage disease including corneal opacities, multifocal...

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Detalles Bibliográficos
Autores principales: Mansour, Tamer A., Woolard, Kevin D., Vernau, Karen L., Ancona, Devin M., Thomasy, Sara M., Sebbag, Lionel, Moore, Bret A., Knipe, Marguerite F., Seada, Haitham A., Cowan, Tina M., Aguilar, Miriam, Titus Brown, C., Bannasch, Danika L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162951/
https://www.ncbi.nlm.nih.gov/pubmed/32300136
http://dx.doi.org/10.1038/s41598-020-63451-4

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