Associated Papers
Molecular and structural characterization of a novel β-hemoglobinopathy caused by in Cis β-globin mutations in a Thai individual.
Singha K et al.
Scientific Reports, 2025
Mutation Analysis of Exon 1 in the Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia.
Kumar KS et al.
Cureus, 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
Hb Guangxi [β65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]: A Novel β-Globin Variant.
Xu M et al.
Hemoglobin, 2021
Molecular Characterization and Hematological Aspects of Hb E-Myanmar [β26(B8)Glu→Lys and β65(E9)Lys→Asn, HBB: c.[79G>A;198G>C]): A Novel β-Thalassemic Hemoglobin Variant.
Satthakarn S et al.
Hemoglobin, 2020
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Automated analysis of hemoglobin variants using nanoLC-MS and customized databases.
Das R et al.
Journal of Proteome Research, 2013
23692286 (PubMed )
Supplement: pr4000625_si_001.pdf
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
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