| http://purl.uniprot.org/citations/2495302 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/2495302 | http://www.w3.org/2000/01/rdf-schema#comment | "We have characterized a new mutant mouse that has virtually no beta-glucuronidase activity. This biochemical defect causes a murine lysosomal storage disease that has many interesting similarities to human mucopolysaccharidosis type VII (MPS VII; Sly syndrome; beta-glucuronidase deficiency). Genetic analysis showed that the mutation is inherited as an autosomal recessive that maps to the beta-glucuronidase gene complex, [Gus], on the distal end of chromosome 5. Although there is a greater than 200-fold reduction in the beta-glucuronidase mRNA concentration in mutant tissues, Southern blot analysis failed to detect any abnormalities in the structural gene, Gus-sb, or in 17 kb of 5' flanking and 4 kb of 3' flanking sequences. Surprisingly, a sensitive S1 nuclease assay indicated that the relative level of kidney gusmps mRNA responded normally to androgen induction by increasing approximately 11-fold. Analysis of this mutant mouse may offer valuable information on the pathogenesis of human MPS VII and provide a useful system in which to study bone marrow transplantation and gene transfer methods of therapy."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci114010"xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/author | "Davisson M.T."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/author | "Beamer W.G."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/author | "Birkenmeier E.H."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/author | "Ganschow R.E."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/author | "Wawrzyniak C.J."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/author | "Gwynn B."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/author | "Vogler C.A."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/author | "Lyford K.A."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/author | "Maltais L.M."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/date | "1989"xsd:gYear |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/name | "J Clin Invest"xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/pages | "1258-1266"xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/title | "Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency."xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://purl.uniprot.org/core/volume | "83"xsd:string |
| http://purl.uniprot.org/citations/2495302 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/2495302 |
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| http://purl.uniprot.org/uniprot/#_Q3TW82-mappedCitation-2495302 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/2495302 |