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http://purl.uniprot.org/citations/16247064http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16247064http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16247064http://www.w3.org/2000/01/rdf-schema#comment"Mutations in the valosin-containing protein (VCP) on chromosome 9p13-p12 were recently found to be associated with hereditary inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD). We identified a novel missense mutation in the VCP gene (R159H; 688G>A) segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone but without clinical signs of dementia."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.org/dc/terms/identifier"doi:10.1212/01.wnl.0000180407.15369.92"xsd:string
http://purl.uniprot.org/citations/16247064http://purl.org/dc/terms/identifier"doi:10.1212/01.wnl.0000180407.15369.92"xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Wagner L."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Wagner L."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Zimprich A."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Zimprich A."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Zimprich F."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Zimprich F."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Bittner R.E."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Bittner R.E."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Haubenberger D."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Haubenberger D."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Mannhalter C."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Mannhalter C."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Vass K."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Vass K."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Auff E."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Auff E."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Mineva I."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Mineva I."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Rauch-Shorny S."xsd:string
http://purl.uniprot.org/citations/16247064http://purl.uniprot.org/core/author"Rauch-Shorny S."xsd:string