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Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene

BACKGROUND: Mucopolysaccharidoses (MPS) are common lysosomal storage disorders causing typically progressive skeletal and ocular abnormalities. OBJECTIVES: To describe the clinic features, metabolic profile and a unique mutation in a domestic shorthair (DSH) kitten with MPS VII. ANIMALS: Affected ki...

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Detalles Bibliográficos
Autores principales: Wang, P., Sorenson, J., Strickland, S., Mingus, C., Haskins, M.E., Giger, U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624456/
https://www.ncbi.nlm.nih.gov/pubmed/26118695
http://dx.doi.org/10.1111/jvim.13569