Associated Papers
Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.
Bao X et al.
Human Genomics, 2023
Evaluation of interference from 16 hemoglobin variants on hemoglobin A1c measurement by five methods.
Yang X et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2023
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-Full_dataset
Identification of a rare compound heterozygous hemoglobin variant β0-thal [β17(A14) Lys>Stop, HBB: c.52A>T] and Hb J-Lome [β59(E3) Lys>Asn, HBB: c.180G>C].
Chen Z et al.
Hematology (amsterdam, Netherlands), 2022
Hb Dahua [β59(E3)Lys→Met; HBB: c.179A>T] a Novel Variant on the β-Globin Gene.
Qin YY et al.
Hemoglobin, 2021
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
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