Associated Papers
Identification of a β-Globin Gene Mutation with the Genotype β-28(A > G), IVS-I-5(G > A)/βCD 71/72(+A) Using Third-Generation Sequencing.
Zeng GK et al.
Hemoglobin, 2025
Comparison of Third-Generation Sequencing and Routine Polymerase Chain Reaction in Genetic Analysis of Thalassemia.
Xu Z et al.
Archives of Pathology & Laboratory Medicine, 2024
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
A Triple-Heterozygous β-Thalassemia Patient Demonstrated an Unusual Electrophoresis Pattern Due to a Novel β0 Mutation [an IVS-II-654 (C>T) mutation with a Hb Zürich-Langstrasse (HBB: c.151A>T) mutation in cis].
Liao J et al.
Hemoglobin, 2022
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Select a paper to view details