| http://purl.uniprot.org/citations/15712269 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15712269 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15712269 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D). Protein residues G801 and H200 are conserved among the four mammalian alpha-mannosidases cloned to date: human, cattle, cat and mouse. In vitro expression studies demonstrated that both missense mutations expressed no residual alpha-mannosidase activity indicating that they are disease-causing mutations. Modelling into the three-dimensional structure revealed that the p.H200L could involve the catalytic mechanism, whereas p.G801D would affect the correct folding of the enzyme."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.9310"xsd:string |
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| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Parini R."xsd:string |
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| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Ricci R."xsd:string |
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| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Bembi B."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Bembi B."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Pittis M.G."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Pittis M.G."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Antuzzi D."xsd:string |
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| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Heikinheimo P."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Heikinheimo P."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Spaccini L."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Spaccini L."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Beccari T."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Beccari T."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Balducci C."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Balducci C."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Bibi L."xsd:string |
| http://purl.uniprot.org/citations/15712269 | http://purl.uniprot.org/core/author | "Bibi L."xsd:string |