| http://purl.uniprot.org/citations/17977029 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17977029 | http://www.w3.org/2000/01/rdf-schema#comment | "We present the results of screening for pyruvate kinase (PK) deficiency on a cohort of 146 patients pre-selected from 4017 individuals by hematological index analysis. On average the PK activity levels measured in this cohort study were about 1.9% IU/g Hb while the activity measured in 85 healthy adults with normal erythrocyte indexes was in the range of 3.9-9.8 IU/g Hb. We were able to define 14 different mutations in the coding sequence of the R-PK gene in 74 individuals with low enzyme activity. The most common were the G1168A and G1529A mutations at exon 11 occurring in 54% of the cases. Other mutations occurring more than once were C1492T, C1456T, G1291A, C1594T, G787A, G994A, and G1010C. The polymorphism at nt 1705 was in linkage disequilibrium with the A and C polymorphism, which indicated a multi-centric origin of the mutation. Further study of the promoter region and intron/exon boundary is under investigation."xsd:string |
| http://purl.uniprot.org/citations/17977029 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bcmd.2007.08.008"xsd:string |
| http://purl.uniprot.org/citations/17977029 | http://purl.uniprot.org/core/author | "Karimi M."xsd:string |
| http://purl.uniprot.org/citations/17977029 | http://purl.uniprot.org/core/author | "Yavarian M."xsd:string |
| http://purl.uniprot.org/citations/17977029 | http://purl.uniprot.org/core/author | "Afrasiabi A.R."xsd:string |
| http://purl.uniprot.org/citations/17977029 | http://purl.uniprot.org/core/author | "Shahriary M."xsd:string |
| http://purl.uniprot.org/citations/17977029 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/17977029 | http://purl.uniprot.org/core/name | "Blood Cells Mol Dis"xsd:string |
| http://purl.uniprot.org/citations/17977029 | http://purl.uniprot.org/core/pages | "308-311"xsd:string |
| http://purl.uniprot.org/citations/17977029 | http://purl.uniprot.org/core/title | "Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular analysis."xsd:string |
| http://purl.uniprot.org/citations/17977029 | http://purl.uniprot.org/core/volume | "40"xsd:string |
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