| http://purl.uniprot.org/citations/23094635 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23094635 | http://www.w3.org/2000/01/rdf-schema#comment | "Most α-thalassemia (α-thal) mechanisms are deletions of one or both α-globin genes and less than 5.0-10.0% are point mutations. Hb Agrinio [α29(B10)Leu→Pro, CTG>CCG (α2)] is a hyperunstable α chain structural variant in which the thalassemic phenotype is determined by a post translational precipitation of the structurally anomalous chain in erythroid precursors. This study involved 14 cases with Hb Agrinio from three families. Selective sequencing of the α2 gene showed a CTG(Leu)>CCG(Pro) mutation at codon 29. The mutation was found in a heterozygous state in 11 cases and in a homozygous state in three cases. These are the first cases with Hb Agrinio described in Spain. In all cases where a leucine is exchanged for a proline, an unstable hemoglobin (Hb) will occur both in the α and the β chain. Some of these are as unstable as Hb Agrinio and their presence is difficult to detect except by DNA sequencing."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.org/dc/terms/identifier | "doi:10.3109/03630269.2012.733988"xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Villegas A."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Baiget M."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Gonzalez F.A."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Ropero P."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Badell I."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Ricard P."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Diaz-Mediavilla J."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Erythropathology Spanish Group"xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Martinez-Nieto J."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "Vinuesa L."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/author | "de la Fuente-Gonzalo F."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/name | "Hemoglobin"xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/pages | "526-532"xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/title | "Study of three families with Hb Agrinio [alpha29(B10)Leu→Pro, CTG>CCG (alpha2)] in the Spanish population: three homozygous cases."xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://purl.uniprot.org/core/volume | "36"xsd:string |
| http://purl.uniprot.org/citations/23094635 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23094635 |
| http://purl.uniprot.org/citations/23094635 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23094635 |
| http://purl.uniprot.org/uniprot/#_A0A0K2BMD8-mappedCitation-23094635 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23094635 |
| http://purl.uniprot.org/uniprot/#_E9LUX2-mappedCitation-23094635 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23094635 |
| http://purl.uniprot.org/uniprot/#_A0A3S8UZ26-mappedCitation-23094635 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23094635 |
| http://purl.uniprot.org/uniprot/#_G3V1N2-mappedCitation-23094635 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23094635 |