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http://purl.uniprot.org/citations/10513892 | http://www.w3.org/2000/01/rdf-schema#comment | "Alpha-mannosidosis in the human is an autosomal recessive lysosomal storage disease caused by a deficiency of lysosomal alpha-D-mannosidasea activity. Lysosomal alpha-D-mannosidase is involved in the catabolism of N-linked glycoproteins through the sequential degradation of high-mannose, hybrid and complex oligosaccharides. This review is focused on human, mouse, bovine and feline genes coding for lysosomal alpha-D-mannosidase. In particular the exon-intron structure of the genes, their promoters, and the identification of mutations causing the disease have been examined. The construction, by homologous recombination, of a mouse model of alpha-mannosidosis is reported."xsd:string |
http://purl.uniprot.org/citations/10513892 | http://purl.org/dc/terms/identifier | "doi:10.1023/a:1020217501465"xsd:string |
http://purl.uniprot.org/citations/10513892 | http://purl.uniprot.org/core/author | "Orlacchio A."xsd:string |
http://purl.uniprot.org/citations/10513892 | http://purl.uniprot.org/core/author | "Beccari T."xsd:string |
http://purl.uniprot.org/citations/10513892 | http://purl.uniprot.org/core/author | "Stinchi S."xsd:string |
http://purl.uniprot.org/citations/10513892 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
http://purl.uniprot.org/citations/10513892 | http://purl.uniprot.org/core/name | "Biosci Rep"xsd:string |
http://purl.uniprot.org/citations/10513892 | http://purl.uniprot.org/core/pages | "157-162"xsd:string |
http://purl.uniprot.org/citations/10513892 | http://purl.uniprot.org/core/title | "Lysosomal alpha-D-mannosidase."xsd:string |
http://purl.uniprot.org/citations/10513892 | http://purl.uniprot.org/core/volume | "19"xsd:string |
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