| http://purl.uniprot.org/citations/16099459 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16099459 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16099459 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations of SGCE encoding epsilon-sarcoglycan cause myoclonus-dystonia. SGCE is paternally expressed; however, 5-10% of patients show maternal inheritance of the disease. We found Sgce was exclusively paternally expressed in mice by using a novel polymorphism marker. The result was confirmed in Sgce heterozygous knockout mice. This finding suggests that maternally inherited myoclonus-dystonia may not result from maternal expression of SGCE. Furthermore, we report a new family of alternatively spliced Sgce mRNA expressed in the brain coding for different C-terminal sequences possessing a PDZ-binding motif. Our results provide a better basis for diagnosis and understanding of the pathogenesis of myoclonus-dystonia."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.febslet.2005.07.065"xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.febslet.2005.07.065"xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/author | "Li Y."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/author | "Mitsui S."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/author | "Mitsui S."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/author | "Yokoi F."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/author | "Yokoi F."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/author | "Dang M.T."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/author | "Dang M.T."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/name | "FEBS Lett."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/name | "FEBS Lett"xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/pages | "4822-4828"xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/pages | "4822-4828"xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/title | "Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/title | "Exclusive paternal expression and novel alternatively spliced variants of epsilon-sarcoglycan mRNA in mouse brain."xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/volume | "579"xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://purl.uniprot.org/core/volume | "579"xsd:string |
| http://purl.uniprot.org/citations/16099459 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16099459 |
| http://purl.uniprot.org/citations/16099459 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16099459 |