Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene
Author:
Affiliation:
1. Section of Medical Genetics School of Veterinary Medicine University of Pennsylvania Philadelphia PA
2. Jordan Creek Animal Hospital West Des Moines IA
Funder
National Institutes of Health
Publisher
Wiley
Subject
General Veterinary
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jvim.13569
Reference28 articles.
1. Lysosomal Storage Diseases
2. Cloning, sequencing, and expression of cDNA for human beta-glucuronidase.
3. Active site mutant transgene confers tolerance to human -glucuronidase without affecting the phenotype of MPS VII mice
4. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)
5. Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency.
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