LAUSR: hemoglobin beta

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Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.

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0 Published in 2023 at "Hematology"

DOI: 10.1080/16078454.2023.2187155

Abstract: OBJECTIVES Clinical manifestations of patients with Hemoglobin E/beta-thalassemia vary from mild to severe phenotypes despite exhibiting the same genotype. Studies have partially identified genetic modifiers. We aimed to study the association between rare variants in… read more here.

Keywords: hemoglobin beta; thalassemia; genetic modifiers; beta thalassemia ... See more keywords

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Whole exome sequencing and rare variant association study to identify genetic modifiers, KLF1 mutations, and a novel double mutation in Thai patients with hemoglobin E/beta-thalassemia.