Associated Papers
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Byrou S et al.
International Journal of Molecular Sciences, 2025
39859286 (PubMed )
Supplement: ijms-26-00570-s001.zip › Supplementary.pdf
Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25.
Demidova E et al.
Hemoglobin, 2023
Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.
Novak W et al.
Pediatric Blood & Cancer, 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
Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA.
Lin W et al.
International Journal of Laboratory Hematology, 2021
Select a paper to view details