| http://purl.uniprot.org/citations/7860068 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7860068 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7860068 | http://www.w3.org/2000/01/rdf-schema#comment | "Metachromatic leukodystrophy is a lysosomal storage disease caused by deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of an Ashkenazi Jewish patient suffering from the severe late infantile form of the disease revealed a point mutation in exon 2 causing proline 136 to be substituted by leucine. The patient was homozygous for this mutation. Studies on Ltk-cells stably expressing the mutant enzyme show that the mutation causes complete loss of enzyme activity and rapid degradation in an early biosynthetic compartment."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00209402"xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf00209402"xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/author | "Gieselmann V."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/author | "Gieselmann V."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/author | "Heinisch U."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/author | "Heinisch U."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/author | "Kafert S."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/author | "Kafert S."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/author | "Zlotogora J."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/author | "Zlotogora J."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/date | "1995"xsd:gYear |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/pages | "201-204"xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/pages | "201-204"xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/title | "A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/title | "A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme."xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/volume | "95"xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://purl.uniprot.org/core/volume | "95"xsd:string |
| http://purl.uniprot.org/citations/7860068 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7860068 |
| http://purl.uniprot.org/citations/7860068 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/7860068 |