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Hb Monza: A novel extensive HBB duplication with preserved α-β subunit interaction and unstable hemoglobin phenotype
Background Unstable hemoglobins are caused by single amino acid substitutions in the
HBB gene, often affecting key histidine residues, leading to protein destabilization and …
HBB gene, often affecting key histidine residues, leading to protein destabilization and …
Characterization of a Novel 71.8 kb α0-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis
ML Xu, JC Qin, BY Chen, XX Yang, HP Liu, WX Yuan… - …, 2020 - Taylor & Francis
Thalassemia is the most common monogenic disorder around the world. Based on the
principle of genotype–phenotype correlation, identification of thalassemia mutations is the …
principle of genotype–phenotype correlation, identification of thalassemia mutations is the …
Genetic bases and modifiers of β-thalassemia in Argentina
KG Scheps, JP Salim, V Varela, N Basack, E García… - Human Gene, 2022 - Elsevier
Introduction β-syndromes are still a challenge for health professionals and many efforts are
performed to achieve adequate diagnosis and develop novel treatments. The molecular …
performed to achieve adequate diagnosis and develop novel treatments. The molecular …
Molecular and phenotype characterization of an elongated β‐globin variant produced by HBB: C. 313delA
W Lin, Q Zhang, Z Shen, X Qu, Q Wang… - International Journal …, 2021 - Wiley Online Library
Introduction β‐thalassemia is a severe hereditary hemolytic anemia. Due to the diversity of
mutations spectrum, β‐thalassemia manifests a highly heterogeneous clinical severity. We …
mutations spectrum, β‐thalassemia manifests a highly heterogeneous clinical severity. We …
[PDF][PDF] Prediction of RNA Secondary Structure at IVS1 Mutation of Beta Globin Gene
NI Sumantri, DR Wijayanti - academia.edu
Background: Beta globin gene is responsible for producing beta globin chains that stabilize
the structure and function of hemoglobin. This gene expression is controlled by complex …
the structure and function of hemoglobin. This gene expression is controlled by complex …
[HTML][HTML] 血红蛋白 α, β 亚基在大鼠不同类型血管组织中的表达
臧家涛， **清晖， 吴跃， 张紫森， 刘良明 - 2022 - aammt.tmmu.edu.cn
目的阐明大鼠血管组织是否表达血红蛋白(hemoglobin, Hb) α, β 亚基, 以及不同类型血管组织中
的表达是否具有规律性. 方法通过RT-PCR, DNA 测序和Western blot 分析SD 大鼠颈总动脉 …
的表达是否具有规律性. 方法通过RT-PCR, DNA 测序和Western blot 分析SD 大鼠颈总动脉 …