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The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease
(Termedia Publishing House Ltd, 2011-02-01)
Introduction: Sickle cell disease (SCD) is an inflammatory condition with an increase in the adhesion of sickled erythrocytes, and it is a potential cause of vaso-occlusive episodes, an event related to clinical manifestations, ...
The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis
(Ferrata Storti Foundation, 1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine beta-synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we Investigated this ...
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease
(Termedia Publishing House Ltd, 2011-02-01)
Introduction: Sickle cell disease (SCD) is an inflammatory condition with an increase in the adhesion of sickled erythrocytes, and it is a potential cause of vaso-occlusive episodes, an event related to clinical manifestations, ...
The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis
(Ferrata Storti Foundation, 1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine beta-synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we Investigated this ...
The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease
(Termedia Publishing House Ltd, 2014)
The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis
(Ferrata Storti Foundation, 2014)
The frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis
(1998-11-01)
Background and Objectives. A frequent mutation in the cystathionine β- synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we investigated this ...
Impact of genetic polymorphisms in key enzymes of homocysteine metabolism on the pathophysiology of sickle cell anemia
(Elsevier B.V., 2017-05-01)
This work aimed at studying a possible influence of methylenetetrahydrofolate reductase (MTHFR; C. 677C > T) and cystathionine beta-synthase (CBS; 844ins68) polymorphisms on overall oxidative status of sickle cell anemia ...
Molecular analysis of homocystinuria in Brazilian patients
(Elsevier B.V., 2005-12-01)
Background: Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. However, no data are available concerning the molecular basis of this disease in Brazilian populations.Methods: We studied ...