| http://purl.uniprot.org/citations/16009553 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16009553 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16009553 | http://www.w3.org/2000/01/rdf-schema#comment | "A novel desmin R355P mutation has been identified in a patient with familial cardiac and skeletal myopathy. Two types of desmin storage were observed in the skeletal muscles. The spheroid-like bodies dominated in type 2 fibres while extensive accumulation of granulofilamentous material was found in type 1 fibres and in cardiomyocytes. A novel missense mutation R355P in the rod domain located in the C-terminal part of the 2B subunit is the eighth missense mutation, which changes the original aminoacid into proline. Proline is known to disrupt the alpha-helix and distort a unique stutter sequence that is critically important for proper filament assembly."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2005.05.006"xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2005.05.006"xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Sadowska M."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Sadowska M."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Vicart P."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Vicart P."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Hausmanowa-Petrusewicz I."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Hausmanowa-Petrusewicz I."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Fidzianska A."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Fidzianska A."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Goudeau B."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Goudeau B."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Kotowicz J."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Kotowicz J."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Walczak E."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/author | "Walczak E."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/pages | "525-531"xsd:string |
| http://purl.uniprot.org/citations/16009553 | http://purl.uniprot.org/core/pages | "525-531"xsd:string |