| http://purl.uniprot.org/citations/18061454 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18061454 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18061454 | http://www.w3.org/2000/01/rdf-schema#comment | "Desmin myopathy was identified in a Chinese man with complete heart block and mild proximal and distal limb weakness. A novel heterozygous missense S13F mutation of the desmin gene was found to be associated with the myopathy. Family members carrying the mutation showed a similar or milder phenotype. The mutation is located at a protein kinase-C phosphorylation site within a highly conserved nonapeptide sequence in the head domain of the desmin protein. Expression of the mutant desmin cDNA in cell lines induced large desmin accumulations associated with preservation of a filamentous network."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2007.09.011"xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nmd.2007.09.011"xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Kathirvel P."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Kathirvel P."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Lai P.S."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Lai P.S."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Pica E.C."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Pica E.C."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Pramono Z.A."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Pramono Z.A."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Yee W.C."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/author | "Yee W.C."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/name | "Neuromuscul. Disord."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/pages | "178-182"xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/pages | "178-182"xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/title | "Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/title | "Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family."xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/volume | "18"xsd:string |
| http://purl.uniprot.org/citations/18061454 | http://purl.uniprot.org/core/volume | "18"xsd:string |