Associated Papers
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB
Interference of Hemoglobin A1c Due to Hemoglobin Franklin Park.
Kim JT et al.
The Journal of Applied Laboratory Medicine, 2019
Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.
Sasai H et al.
Molecular Genetics & Genomic Medicine, 2017
Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.
Phylipsen M et al.
International Journal of Laboratory Hematology, 2011
Requirement of an E1A-sensitive coactivator for long-range transactivation by the beta-globin locus control region.
Forsberg EC et al.
The Journal of Biological Chemistry, 1999
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