| http://purl.uniprot.org/citations/19205976 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19205976 | http://www.w3.org/2000/01/rdf-schema#comment | "beta-Globin haplotypes have been used to investigate the origin and spread of beta-globin mutations such as Hb S [beta 6(A3)Glu-->Val, GAG>GTG], Hb E [beta 26(B8)Glu-->Lys, GAG>AAG], and beta-thalassemia (beta-thal). Molecular analyses revealed the presence of 17 beta-thal mutations in the Mexican population; the most frequent of these are the nonsense codon 39 (C>T), IVS-I-1 (G>A), IVS-I-110 (G>A), and -28 (A>C). To improve our knowledge about their origin, we analyzed the 5' haplotypes by restriction fragment length polymorphism. The codon 39 mutation (n = 17) was observed with five 5' haplotypes: 1 (59%), 2 (23%), and 4, 6, and 9 (6% each). The IVS-I-1 mutation (n = 15) was found with five 5' haplotypes: 1 (73.6%), 2, 3, 5, and 11 (6.6% each), whereas the IVS-I-110 (n = 9) and -28 mutations (n = 1) were only associated with haplotype 1. In the population studied, the codon 39 and IVS-I-1 mutations show a multicentric origin, whereas the IVS-I-110 and -28 mutations have an apparent single origin. Further investigation is required for the analysis of the polymorphisms surrounding the beta-globin gene."xsd:string |
| http://purl.uniprot.org/citations/19205976 | http://purl.org/dc/terms/identifier | "doi:10.1080/03630260802625923"xsd:string |
| http://purl.uniprot.org/citations/19205976 | http://purl.uniprot.org/core/author | "Ibarra B."xsd:string |
| http://purl.uniprot.org/citations/19205976 | http://purl.uniprot.org/core/author | "Morales K.R."xsd:string |
| http://purl.uniprot.org/citations/19205976 | http://purl.uniprot.org/core/author | "Perea F.J."xsd:string |
| http://purl.uniprot.org/citations/19205976 | http://purl.uniprot.org/core/author | "Magana M.T."xsd:string |
| http://purl.uniprot.org/citations/19205976 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19205976 | http://purl.uniprot.org/core/name | "Hemoglobin"xsd:string |
| http://purl.uniprot.org/citations/19205976 | http://purl.uniprot.org/core/pages | "66-71"xsd:string |
| http://purl.uniprot.org/citations/19205976 | http://purl.uniprot.org/core/title | "Diversity of the 5' beta-globin haplotype of four beta-thalassemia mutations in the Mexican population."xsd:string |
| http://purl.uniprot.org/citations/19205976 | http://purl.uniprot.org/core/volume | "33"xsd:string |
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