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Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain.
29 Αυγ 2024 · Sickle cell anemia (SCA) is caused by homozygosity of hemoglobin S, a result of a missense mutation in the β-globin gene that substitutes valine for glutamine at the sixth amino acid in...
27 Νοε 2019 · In 1949, the discovery of the abnormal sickle cell hemoglobin protein (HbS) β-globin chain revealed a mutation where glutamic acid is replaced with a valine (β6Glu→Val). From this discovery came the pathophysiological mechanism based on the abnormal polymerization of deoxy-HbS.
9 Σεπ 2020 · This study aims to investigate the effects of single nucleotide polymorphisms in genes encoding drug-metabolizing enzymes and solute carriers on hydroxyurea response, in patients with sickle cell anemia.
1 Δεκ 2022 · Sickle cell disease (SCD), caused mainly by homozygosity for the HBB p.Glu6Val mutation, is a particularly common β-hemoglobinopathy, and was the first genetic disorder characterised at a molecular level.
A cross-sectional clinic-based study exploring whether variants within genes coding for enzymes of the transmethylation and trans-sulphuration pathways are associated with inter-individual phenotypic variation in sickle cell anaemia in Jamaica.
11 Φεβ 2022 · Sickle cell disease is a single-cell mutation gene disorder with a substitution of glutamine to valine at the sixth amino acid position in the beta chain hemoglobin. The mutation causes the body to make abnormal hemoglobin that causes the red blood cells to form a crescent shape that is rigid, sticky, and has a lack of iron and oxygen to carry ...
