Read more about the article delta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.
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delta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.

Abstract

Continue Readingdelta F508 cystic fibrosis mutation appears very infrequently in the Greek-Cypriot community of Cyprus.
Read more about the article Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.
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Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.

Abstract The molecular basis of most beta-thalassemia syndromes has been defined, while the spectrum of mutations causing delta-thalassemia is not well characterized. In an attempt to identify such mutations, the…

Continue ReadingIdentification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.
Read more about the article Multiple sclerosis in Cyprus.
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Multiple sclerosis in Cyprus.

Abstract The prevalence of multiple sclerosis (MS) was studied in the Greek-speaking population in the southwestern district of Paphos and the eastern Famagusta area and in the Troodos mountains in…

Continue ReadingMultiple sclerosis in Cyprus.
Read more about the article Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK.
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Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK.

Abstract The application of the amplification refractory mutation system (ARMS) to the detection of individual beta-thalassaemia mutations in heterozygous parents and "at risk" fetuses has been assessed in Indian and…

Continue ReadingRapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK.
Read more about the article Problems in the control of genetic disorders.
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Problems in the control of genetic disorders.

Abstract Preventive genetics services based on population screening are now an integral part of maternal and child health programmes. New developments in DNA technology, ultrasound scanning, and assay of factors…

Continue ReadingProblems in the control of genetic disorders.
Read more about the article Beta thalassaemia mutations in Turkish Cypriots.
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Beta thalassaemia mutations in Turkish Cypriots.

Abstract Using oligonucleotide hybridisation or restriction endonuclease analysis, we have characterised the molecular defect in 94 patients with thalassaemia major and four with thalassaemia intermedia of Turkish Cypriot descent. We…

Continue ReadingBeta thalassaemia mutations in Turkish Cypriots.
Read more about the article Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.
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Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.

Abstract 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…

Continue ReadingCystic fibrosis patients from the Black Sea region: the 1677delTA mutation.
Read more about the article Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.
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Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.

Abstract Polycystic kidney disease is an inherited heterogeneous disorder that affects approximately 1:1000 Europeans. It is characterized mainly by the formation of cysts in the kidney that lead to end-stage…

Continue ReadingGenetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families.
Read more about the article alpha-Thalassaemia in the population of Cyprus.
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alpha-Thalassaemia in the population of Cyprus.

Abstract We have determined the alpha-thalassaemia (alpha-thal) determinants in 78 patients with Hb H disease from Cyprus; 25 were Turkish Cypriots and 53 were Greek Cypriots. Four deletional and three…

Continue Readingalpha-Thalassaemia in the population of Cyprus.
Read more about the article Weak evidence for allelic association in the cypriot PKD1 population.
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Weak evidence for allelic association in the cypriot PKD1 population.

Abstract

Continue ReadingWeak evidence for allelic association in the cypriot PKD1 population.