Annals of Hematology - Most β-thalassemias are caused by mutations involving one or a limited number of nucleotides within the gene or its adjacent regions. They can be substitutions or...doi:10.1007/s00277-022-04837-4Ropero, PalomaInstituto de Investigación Sanitaria Hospital Clínico San ...
HBB gene encodes hemoglobin beta chain. The hemoglobin chains, each with its own heme moiety, cooperate in binding and release of oxygen. Hemoglobin monomers have been found in blood and other tissues including macrophages, alveolar epithelial cells and brain. Defects in HBB have been linked to ...
codon 5 [−CT] (HBB: c.17_18delCT) mutation in beta-globin (β-globin) gene and δ0 codon 59 [−A] (HBD: c.179delA) mutation in delta-globin (δ-globin) gene. The proband tested negative for the common deletional forms of alpha thalassemia (α-thal). Polymorphism of the Xm...
HBB gene encodes hemoglobin beta chain. The hemoglobin chains, each with its own heme moiety, cooperate in binding and release of oxygen. Hemoglobin monomers have been found in blood and other tissues including macrophages, alveolar epithelial cells and brain. Defects in HBB have been linked to ...
protein-coding gene 同源简称(alias symbol) 基因家族代码(gene_family_id) 542[HGNC][GenScript] omim代码 147390 entrez码 3625[Vega] ensembl基因码 ENSG00000163083[Ensembl] 基因家族(gene family) Endogenous ligands refseq数据库代号 NM_002193 更多... ...
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Conclusion Carriers of pathogenic variants in the HBB gene, but not the HBA1/HBA2 genes, are more likely to have lower FF when compared to women with structurally normal hemoglobin. This decrease in FF could result in an elevated test‐failure rate if FF thresholds were used....