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

@inproceedings{Wang2015MucopolysaccharidosisVI,
  title={Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene},
  author={Pei Wang and Jeff A. Sorenson and Shelby Strickland and Charles Mingus and M. E. Haskins and Urs Giger},
  booktitle={Journal of veterinary internal medicine},
  year={2015}
}
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 kitten and 80 healthy cats. METHODS Serum lysosomal enzyme activities and urinary glycosaminoglycan (GAG) accumulation were assessed. Exons of the β-glucuronidase gene (GUSB) were sequenced from… CONTINUE READING
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