| http://purl.uniprot.org/citations/27282571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27282571 | http://www.w3.org/2000/01/rdf-schema#comment | "Hexokinase (HK) is a key enzyme of glycolysis, the only metabolic pathway able to provide the red blood cell with ATP. HK deficiency is a very rare hereditary disorder with severe chronic nonspherocytic hemolytic anemia (HNSHA) as a major clinical feature. To date, only 24 patients with HK deficiency have been identified. Here, we report the molecular analysis of six new cases of HK deficiency. A total of six different mutations were detected in HK1, four of them described here for the first time: c.2599C>T p.(His867Tyr), c.1799C>T p.(Thr600Met), c.873-2A>G and c.493-1G>A. The pathogenic nature of the identified missense mutations was confirmed by biochemical and 3-dimensional structural analysis. The effects of the novel splice site mutation c.873-2A>G were studied at the level of pre-mRNA processing, and confirmed at the protein level. All together, these results provide a better insight into the pathogenesis of this rare red cell disorder, and contribute to a better understanding of the genotype-phenotype correlation in HK deficiency."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bcmd.2016.04.002"xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "van Wijk R."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "Divoky V."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "Koralkova P."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "Mojzikova R."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "Vives Corrons J.L."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "van Oirschot B."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "Striezencova Laluhova Z."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "Lejhancova K."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "Macartney C."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/author | "Timr P."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/date | "2016"xsd:gYear |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/name | "Blood Cells Mol Dis"xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/pages | "71-76"xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/title | "Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1."xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://purl.uniprot.org/core/volume | "59"xsd:string |
| http://purl.uniprot.org/citations/27282571 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/27282571 |
| http://purl.uniprot.org/citations/27282571 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/27282571 |
| http://purl.uniprot.org/uniprot/#_A0A994J753-mappedCitation-27282571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27282571 |
| http://purl.uniprot.org/uniprot/#_B4DG62-mappedCitation-27282571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27282571 |
| http://purl.uniprot.org/uniprot/#_A8K7J7-mappedCitation-27282571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27282571 |
| http://purl.uniprot.org/uniprot/#_B1AR62-mappedCitation-27282571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27282571 |
| http://purl.uniprot.org/uniprot/#_B3KRA9-mappedCitation-27282571 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/27282571 |