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http://purl.uniprot.org/citations/21247266http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21247266http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/21247266http://www.w3.org/2000/01/rdf-schema#comment"Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. We describe a novel L67P mutation located in exon 3 of the Cu/Zn superoxide dismutase gene in a patient with pure lower motor neuron signs. To date, 11 mutations involving exon 3 of SOD1 have been described, including the present one. Our data confirm that variable penetrance and predominant lower motor neuron involvement are common characteristics in patients bearing mutations in exon 3 of the SOD1 gene."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.org/dc/terms/identifier"doi:10.3109/17482968.2011.551939"xsd:string
http://purl.uniprot.org/citations/21247266http://purl.org/dc/terms/identifier"doi:10.3109/17482968.2011.551939"xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Marangi G."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Marangi G."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Zollino M."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Zollino M."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Sabatelli M."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Sabatelli M."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Conte A."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Conte A."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Luigetti M."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Luigetti M."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Lattante S."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Lattante S."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Mancuso I."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Mancuso I."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Stipa G."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"Stipa G."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"del Grande A."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/author"del Grande A."xsd:string
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/date"2011"xsd:gYear
http://purl.uniprot.org/citations/21247266http://purl.uniprot.org/core/date"2011"xsd:gYear