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http://purl.uniprot.org/citations/22898041 | http://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 |
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http://purl.uniprot.org/citations/22898041 | http://purl.uniprot.org/core/author | "Costa F.F."xsd:string |
http://purl.uniprot.org/citations/22898041 | http://purl.uniprot.org/core/author | "Lopez P."xsd:string |
http://purl.uniprot.org/citations/22898041 | http://purl.uniprot.org/core/author | "Albuquerque D.M."xsd:string |
http://purl.uniprot.org/citations/22898041 | http://purl.uniprot.org/core/author | "Sonati M.F."xsd:string |
http://purl.uniprot.org/citations/22898041 | http://purl.uniprot.org/core/author | "Sans M."xsd:string |
http://purl.uniprot.org/citations/22898041 | http://purl.uniprot.org/core/author | "Da Luz J."xsd:string |
http://purl.uniprot.org/citations/22898041 | http://purl.uniprot.org/core/author | "Kimura E.M."xsd:string |
http://purl.uniprot.org/citations/22898041 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
http://purl.uniprot.org/citations/22898041 | http://purl.uniprot.org/core/name | "Int J Lab Hematol"xsd:string |
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http://purl.uniprot.org/citations/22898041 | http://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/22898041 | http://purl.uniprot.org/core/volume | "35"xsd:string |
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