| http://purl.uniprot.org/citations/15223006 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/15223006 | http://www.w3.org/2000/01/rdf-schema#comment | "In the present study, we determined the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Cyprus using two different procedures in two separate adult population groups: a semiquantitative fluorescence test on blood spotted on filter paper and a quantitative spectrophotometric test on liquid blood. The frequency of G6PD deficiency among healthy adult males was found to be 5.1% using the semiquantitative procedure and 6.4% using the quantitative procedure. Neither method was able to detect all the expected female heterozygotes (5.3% and 47.1% of the expected number, respectively). A total of 21 male hemizygotes, 1 female homozygote and 9 female heterozygotes that tested positive for G6PD deficiency were studied at the molecular level. All 32 chromosomes were genotyped and five different mutations were identified. The Mediterranean mutation in exon 6 (563C-->T) (Ser188Phe) was found to be the most common variant in the Cypriot population, accounting for 52.6% of the deficient alleles. In the remaining chromosomes, four different mutations were identified: three known mutations, Kaiping 1388G-->A (Arg463His), Chatham 1003G-->A (Ala335Thr) and Acrokorinthos 463C-->G (His155Asp), and one previously undescribed mutation in exon 3, 148C-->T (Pro50Ser), which we called G6PD Kambos. We conclude that the frequency of G6PD deficiency in Cypriot males is 6.4%, and that this deficiency is the result of several different mutations. Although all the individuals carrying the Mediterranean variant can be detected using a semiquantitative screening method, a quantitative enzyme measurement is required to detect the G6PD variants with less severe enzyme deficiencies, while the most appropriate method for heterozygote detection is DNA analysis."xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bcmd.2004.03.004"xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/author | "Drousiotou A."xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/author | "Loiselet J."xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/author | "Angastiniotis M."xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/author | "Verrelli B.C."xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/author | "Tishkoff S.A."xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/author | "Andreou N."xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/author | "Touma E.H."xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/name | "Blood Cells Mol Dis"xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/pages | "25-30"xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/title | "Molecular characterization of G6PD deficiency in Cyprus."xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://purl.uniprot.org/core/volume | "33"xsd:string |
| http://purl.uniprot.org/citations/15223006 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/15223006 |
| http://purl.uniprot.org/citations/15223006 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/15223006 |
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