Browsing by Subject "population genetics"
Now showing items 1-7 of 7
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The cypriot and Iranian National Mutation Frequency Databases.
(2006)The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the ...
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Cystic fibrosis patients from the black sea region: The 1677delTA mutation
(1994)A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. ...
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Screening for Familial Mediterranean Fever M694V and V726A mutations in the Greek population.
(2009)Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disease that primarily affects populations surrounding the Mediterranean basin. FMF patients suffer from recurrent episodes of fever accompanied by ...
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Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population
(2002)Background. This study was performed to establish the allele, genotype and genotype combination/SNP (single nucleotide polymorphism) profile frequencies in the general population of Cyprus for 6 genes implicated in thrombotic ...
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Type 2 diabetes susceptibility in the Greek-Cypriot population: Replication of associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 polymorphisms
(2017)Type 2 diabetes (T2D) has been the subject of numerous genetic studies in recent years which revealed associations of the disease with a large number of susceptibility loci. We hereby initiate the evaluation of T2D ...