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http://purl.uniprot.org/citations/17534957http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/17534957http://www.w3.org/2000/01/rdf-schema#comment"We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree."xsd:string
http://purl.uniprot.org/citations/17534957http://purl.org/dc/terms/identifier"doi:10.1002/mds.21574"xsd:string
http://purl.uniprot.org/citations/17534957http://purl.uniprot.org/core/author"Tijssen M.A."xsd:string
http://purl.uniprot.org/citations/17534957http://purl.uniprot.org/core/author"Ginjaar I."xsd:string
http://purl.uniprot.org/citations/17534957http://purl.uniprot.org/core/author"Forsyth R.J."xsd:string
http://purl.uniprot.org/citations/17534957http://purl.uniprot.org/core/author"Gika A.D."xsd:string
http://purl.uniprot.org/citations/17534957http://purl.uniprot.org/core/date"2007"xsd:gYear
http://purl.uniprot.org/citations/17534957http://purl.uniprot.org/core/name"Mov Disord"xsd:string
http://purl.uniprot.org/citations/17534957http://purl.uniprot.org/core/pages"1643-1645"xsd:string
http://purl.uniprot.org/citations/17534957http://purl.uniprot.org/core/title"A novel GLRA1 mutation in a recessive hyperekplexia pedigree."xsd:string
http://purl.uniprot.org/citations/17534957http://purl.uniprot.org/core/volume"22"xsd:string
http://purl.uniprot.org/citations/17534957http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/17534957
http://purl.uniprot.org/citations/17534957http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/17534957
http://purl.uniprot.org/uniprot/#_Q14C71-mappedCitation-17534957http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17534957
http://purl.uniprot.org/uniprot/#_P23415-mappedCitation-17534957http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17534957
http://purl.uniprot.org/uniprot/#_Q6LC95-mappedCitation-17534957http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/17534957
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http://purl.uniprot.org/uniprot/Q14C71http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/17534957
http://purl.uniprot.org/uniprot/P23415http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/17534957