| http://purl.uniprot.org/citations/8401535 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8401535 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8401535 | http://www.w3.org/2000/01/rdf-schema#comment | "The autosomal recessive glycogen storage disease type II is associated with a deficiency of lysosomal alpha-glucosidase (acid maltase). This paper reports on the mutations in the lysosomal alpha-glucosidase alleles of an adult patient. A G-1927 to A transition was discovered in exon 14 causing the substitution of Gly-643 by Arg and a second C-2173 to T transition in exon 15 resulting in the substitution of Arg-725 by Trp. Each of the mutations was located in a different allele. The mutations were introduced in the wild-type lysosomal alpha-glucosidase cDNA and expressed in COS cells. Both mutations had a similar effect. The synthesis of the mutant enzyme precursors was not disturbed but the intracellular transport and maturation were impaired. As a result there was an overall deficiency of catalytic activity."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.1380020406"xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.1380020406"xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "Oostra B.A."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "Oostra B.A."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "de Graaff E."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "de Graaff E."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "Reuser A.J.J."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "Reuser A.J.J."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "Hermans M.M.P."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "Hermans M.M.P."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "Kroos M.A."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/author | "Kroos M.A."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/pages | "268-273"xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/pages | "268-273"xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/title | "Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/title | "Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II."xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/volume | "2"xsd:string |
| http://purl.uniprot.org/citations/8401535 | http://purl.uniprot.org/core/volume | "2"xsd:string |