| http://purl.uniprot.org/citations/19205978 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19205978 | http://www.w3.org/2000/01/rdf-schema#comment | "The severity of beta-thalassemia (beta-thal) is remarkable for its variability in different populations, even in different patients. We studied a family from Azerbaijan Province, Northwestern Iran, who had a rare beta(0)-thal mutation, namely the frameshift codons (FSC) 25/26 (+T), originally reported in Tunisia. Unlike the Tunisian family, in our family the mutation was a beta(0) type and the affected members were dependent and independent of blood transfusions. This mutation was linked to the -158 (C>T) polymorphism on the (G)gamma-globin gene (XmnI marker) and two other polymorphisms in the (A)gamma-globin promoter at position +25 (G>A) and -588 (G>A). Deletions in the alpha- and beta-globin gene clusters were excluded in all samples. This is the first description of the FSC 25/26 mutation in Iran. The results of this study emphasize the complexity of genetic interactions that underlie the phenotype of beta-thal intermedia and highlight the importance of the regulation of hemoglobin (Hb) F production in the beta-thal syndromes. Simultaneous inheritance of some loci that interfere with the elevation of Hb F probably caused them to have high levels of total Hb and to be transfusion independent."xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.org/dc/terms/identifier | "doi:10.1080/03630260802683377"xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/author | "Harteveld C.L."xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/author | "Pouladi N."xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/author | "Feizi A.A."xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/author | "Feizi M.A."xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/author | "Haghi M."xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/name | "Hemoglobin"xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/pages | "75-80"xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/title | "Homozygosity for a rare beta 0-thalassemia mutation [frameshift codons 25/26 (+T)] causes beta-thalassemia intermedia in an Iranian family."xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://purl.uniprot.org/core/volume | "33"xsd:string |
| http://purl.uniprot.org/citations/19205978 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19205978 |
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