| http://purl.uniprot.org/citations/22943743 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22943743 | http://www.w3.org/2000/01/rdf-schema#comment | "We describe two frameshift mutations associated with an α-thalassemia (α-thal) phenotype, identified in three unrelated individuals investigated for persistent microcytosis. The first mutation, HBA2:c.131delT, is located in codon 43, and the second, HBA2:c.143delA, is located in codon 47. Both are due to single base pair deletions that cause a frameshift and a premature termination codon (PTC) at positions 48/49. The presence of a PTC at this position has been documented to result in nonsense mediated mRNA decay that would account for the thalassemic phenotype."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.org/dc/terms/identifier | "doi:10.3109/03630269.2012.717053"xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/author | "Jennens M."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/author | "Beilby J."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/author | "Finlayson J."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/author | "Holmes P."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/author | "Ghassemifar R."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/author | "Grey D."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/author | "Newbound C."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/author | "Pell N."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/author | "Greenwood L."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/name | "Hemoglobin"xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/pages | "511-515"xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/title | "alpha-thalassemia trait caused by frameshift mutations in exon 2 of the alpha2-globin gene: HBA2:c.131delT and HBA2:c.143delA."xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://purl.uniprot.org/core/volume | "36"xsd:string |
| http://purl.uniprot.org/citations/22943743 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22943743 |
| http://purl.uniprot.org/citations/22943743 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22943743 |
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| http://purl.uniprot.org/uniprot/#_D1MGQ2-mappedCitation-22943743 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22943743 |
| http://purl.uniprot.org/uniprot/#_P69905-mappedCitation-22943743 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22943743 |