Associated Papers
Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.
Al-Subaie AM et al.
Journal of Clinical Medicine, 2026
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Stephanou C et al.
Biomedicines, 2024
Control of mRNA Splicing by Intragenic RNA Activators of Stress Signaling: Potential Implications for Human Disease.
Kaempfer R et al.
Frontiers in Genetics, 2019
β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint.
De Sanctis V et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2017
The molecular basis of β-thalassemia.
Thein SL
Cold Spring Harbor Perspectives in Medicine, 2013
Disease-associated mutations that alter the RNA structural ensemble.
Halvorsen M et al.
Plos Genetics, 2010
20808897 (PubMed )
Supplement: pgen.1001074.s008.pdf
beta-Thalassaemia intermedia in a Turkish girl: homozygosity for G-->A substitution at +22 relative to the beta-globin cap site.
Oner R et al.
British Journal of Haematology, 2001
Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes.
Maragoudaki E et al.
British Journal of Haematology, 1999
Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers.
Colaco S et al.
Mutation Research. Reviews in Mutation Research, 0
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