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 Molecular genetics of amyloid neuropathy in Europe.
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Molecular genetics of amyloid neuropathy in Europe.

Abstract The Portuguese type of familial amyloid polyneuropathy (FAP type I), a disabling autosomal dominant disorder with onset in early adult life, is caused by a point mutation in the…

Continue ReadingMolecular genetics of amyloid neuropathy in Europe.
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 Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.

Abstract Through the procedure of gene amplification combined with hybridization to synthetic 19 base pair (bp) oligonucleotide probes, it has been possible to identify nine different mutations in the DNA…

Continue ReadingMild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.
Read more about the article A comparison of six different bluetongue virus isolates by cross-hybridization of the dsRNA genome segments.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

A comparison of six different bluetongue virus isolates by cross-hybridization of the dsRNA genome segments.

Abstract The relationship between six different isolates of BTV was analyzed by cross-hybridization of genomic dsRNA using blotting and probe techniques (using an alkali fragmented probe made from BTV dsRNA).…

Continue ReadingA comparison of six different bluetongue virus isolates by cross-hybridization of the dsRNA genome segments.
Read more about the article Hyperbaric oxygen for a thalassaemic leg ulcer.
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Hyperbaric oxygen for a thalassaemic leg ulcer.

Abstract A thalassaemic ulcer in a male Greek Cypriot patient, resistant to standard medical treatment, was treated using hyperbaric oxygen in a recompression chamber. The patient breathed 100% oxygen by…

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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 Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.
A rolled newspaper - the left side facing forward. The name of the newspaper is "News" and the words "News" and "Events" are below that. The rubber band keeping the newspaper rolled together is thick and white. There is smaller writing on the newspaper which cannot be read.

Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.

Abstract Autosomal dominant polycystic kidney disease (ADPKD), is a heterogeneous disorder, primarily characterized by the formation of cysts in the kidneys, and the late development in life of progressive chronic…

Continue ReadingPresymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.