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http://purl.uniprot.org/citations/22898041http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/22898041http://www.w3.org/2000/01/rdf-schema#comment"We describe here a new frameshift mutation of β-thalassemia in a Uruguayan family with Italian ancestry [β48 (-T); HBB:c.146delT]. This frameshift results in formation of premature stop codon (TGA) 40 bp downstream and in a short unstable product that is degraded in the cell."xsd:string
http://purl.uniprot.org/citations/22898041http://purl.org/dc/terms/identifier"doi:10.1111/j.1751-553x.2012.01462.x"xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/author"Costa F.F."xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/author"Lopez P."xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/author"Albuquerque D.M."xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/author"Sonati M.F."xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/author"Sans M."xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/author"Da Luz J."xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/author"Kimura E.M."xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/name"Int J Lab Hematol"xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/pages"111-114"xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/title"A new beta⁰-thalassemia frameshift mutation [beta 48 (-T)] in a Uruguayan family."xsd:string
http://purl.uniprot.org/citations/22898041http://purl.uniprot.org/core/volume"35"xsd:string
http://purl.uniprot.org/citations/22898041http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/22898041
http://purl.uniprot.org/citations/22898041http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/22898041
http://purl.uniprot.org/uniprot/#_A0A140KFU0-mappedCitation-22898041http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22898041
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http://purl.uniprot.org/uniprot/#_A0A2R3Z0D6-mappedCitation-22898041http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22898041
http://purl.uniprot.org/uniprot/#_A0A3G9CLN8-mappedCitation-22898041http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22898041
http://purl.uniprot.org/uniprot/#_A1YZ08-mappedCitation-22898041http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22898041
http://purl.uniprot.org/uniprot/#_A0A650F0N3-mappedCitation-22898041http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22898041
http://purl.uniprot.org/uniprot/#_A0A3G5AXY7-mappedCitation-22898041http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22898041
http://purl.uniprot.org/uniprot/#_A0A481SHK9-mappedCitation-22898041http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/22898041