| http://purl.uniprot.org/citations/9931343 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9931343 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9931343 | http://www.w3.org/2000/01/rdf-schema#comment | "Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for EPM2 previously has been mapped to chromosome 6q23-q25 using linkage analysis and homozygosity mapping. Here we report the positional cloning of the 6q EPM2 gene. A microdeletion within the EPM2 critical region, present inhomozygosis in an affected individual, was found to disrupt a novel gene encoding a putative protein tyrosine phosphatase (PTPase). The gene, denoted EPM2, presents alternative splicing in the 5' and 3' end regions. Mutational analysis revealed that EPM2 patients are homozygous for loss-of-function mutations in EPM2. These findings suggest that Lafora disease results from the mutational inactivation of a PTPase activity that may be important in the control of glycogen metabolism."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/8.2.345"xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/8.2.345"xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Gallardo M.E."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Gallardo M.E."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Berkovic S.F."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Berkovic S.F."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Lindhout D."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Lindhout D."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Topcu M."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Topcu M."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Serratosa J.M."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Serratosa J.M."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Grid D."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Grid D."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Dravet C."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Dravet C."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Tassinari C.A."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Tassinari C.A."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Anta B."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Anta B."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Augustijn P.B."xsd:string |
| http://purl.uniprot.org/citations/9931343 | http://purl.uniprot.org/core/author | "Augustijn P.B."xsd:string |