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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.
- Sickle Cell Hepatopathy - StatPearls - NCBI Bookshelf
Sickle cell disease (SCD) is a hemoglobinopathy...
- Sickle Cell Hepatopathy - StatPearls - NCBI Bookshelf
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...
21 Ιουν 2023 · Sickle cell disease (SCD) is a hemoglobinopathy characterized by mutation of the beta-globin chain caused by glutamic acid substituted by valine in the sixth codon, which results in the formation of the mutant sickle cell hemoglobin (HbS) allele ßs.
25 Ιουν 2024 · Sickle hemoglobin (Hb S, alpha2:beta S 2) is a result of a specific point mutation in the gene HBB, which encodes hemoglobin beta chains. It substitutes valine for the normal glutamic acid at the seventh amino acid ( HBB p.glu7val).
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.
7 Μαΐ 2019 · 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...
4 Δεκ 2018 · The presence of haemoglobin S (HbS; α 2 β S 2) — a variant form of Hb with a glutamic acid to valine substitution at position 6 that results from a GAG to GTG mutation in the β-globin gene ...
