| http://purl.uniprot.org/citations/22273484 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22273484 | http://www.w3.org/2000/01/rdf-schema#comment | "We report three cases with very heterogeneous Hb A(2) levels caused by known chromosomal rearrangements in the β-globin locus. These rearrangements had their breakpoints at the same region in the δ gene, leading either to the Senegalese δ(0)β(+)-thalassemia (δ(0)β(+)-thal) deletion or to an insertion of a δ gene, known as Anti-Lepore. One patient showed, apart from drastically increased Hb A(2) values of 17.0%, inconspicuous hematological values. He had an Anti-Lepore mutation with three copies of the δ gene, thus explaining the high Hb A(2) level. Two other patients had Hb A(2) levels in the lower borderline range and increased Hb F levels. Molecular analysis showed the Senegalese δ(0)β(+)-thal deletion. One of them presented with an additional mild β-thal mutation leading to β-thal intermedia. These cases illustrate that different gene rearrangements with the same breakpoints in the δ gene can lead to different levels of Hb A(2) depending on the remaining number of δ genes."xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.org/dc/terms/identifier | "doi:10.3109/03630269.2011.644651"xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/author | "Goossens M."xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/author | "Dutly F."xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/author | "Saller E."xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/author | "Prehu C."xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/author | "Frischknecht H."xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/author | "Vinatier I."xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/author | "Moradkhani K."xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/name | "Hemoglobin"xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/pages | "177-182"xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/title | "Comparison of two known chromosomal rearrangements in the deltabeta-globin complex with identical DNA breakpoints but causing different Hb A(2) levels."xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://purl.uniprot.org/core/volume | "36"xsd:string |
| http://purl.uniprot.org/citations/22273484 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22273484 |
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