Articles with "deletion allele" as a keyword



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Hb Q-Thailand heterozygosity unlinked with the (-α4.2/) α+-thalassemia deletion allele identified by long-read SMRT sequencing: hematological and molecular analyses.

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Published in 2023 at "Hematology"

DOI: 10.1080/16078454.2023.2184118

Abstract: OBJECTIVE In the present study, two unrelated cases of Hb Q-Thailand heterozygosity unlinked with the (-α4.2/) α+-thalassemia deletion allele were identified by long-read single molecule real-time (SMRT) sequencing in southern China. The aim of this… read more here.

Keywords: thalassemia; read smrt; smrt sequencing; deletion allele ... See more keywords

The Pro-Inflammatory Deletion Allele of the NF-κB1 Polymorphism Is Characterized by a Depletion of Subunit p50 in Sepsis

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23147559

Abstract: The functionally important NF-κB1 promoter polymorphism (−94ins/delATTG) significantly shapes inflammation and impacts the outcome of sepsis. However, exploratory studies elucidating the molecular link of this genotype-dependent pattern are lacking. Accordingly, we analyzed lipopolysaccharide-stimulated peripheral blood… read more here.

Keywords: subunit p50; deletion allele; sepsis; polymorphism ... See more keywords