Associated Papers
Complex interaction of δ-globin variant HbA2-Famagusta combined with β-globin variant Hb Monroe in cis with the HBB:c.-92C>G mutation: hematological characteristics and molecular diagnostic insights.
Panyasai S et al.
Expert Review of Hematology, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Selvatici R et al.
Genes, 2024
39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf
Compound heterozygous β(+) β(0) mutation of HBB gene leading to β-thalassemia major in a Gujarati family - A case study.
Chaudhary S et al.
Molecular Genetics and Metabolism Reports, 2016
Phenotypic evaluations of -223 T>C (HBB:c.-223T>C) nucleotide substitution in the promoter region of β-globin gene.
Giambona A et al.
Blood Cells, Molecules & Diseases, 2015
Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanning.
Tabone T et al.
Nucleic Acids Research, 2006
Validation of a recombinant DNA construct (micro LCR and full-length beta-globin gene) for quantification of human beta-globin expression: application to mutations in the promoter, intronic, and 5'- and 3'-untranslated regions of the human beta-globin gene.
Irenge LM et al.
Clinical Chemistry, 2002
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