Associated Papers
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Selvatici R et al.
Genes, 2024
Gene Therapy for β-Hemoglobinopathies: From Discovery to Clinical Trials.
Segura EER et al.
Viruses, 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
A Novel α-Globin Chain Variant, Hb Nanchang [HBA2: c.46G>A, Codon 15 (GGT>AGT) (Gly→Ser)], Detected by Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry.
Xu A et al.
Hemoglobin, 2021
High resolution melting curve analysis targeting the HBB gene mutational hot-spot offers a reliable screening approach for all common as well as most of the rare beta-globin gene mutations in Bangladesh.
Islam MT et al.
Bmc Genetics, 2018
Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.
Lacerra G et al.
Hemoglobin, 2010
Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.
Lacerra G et al.
Human Mutation, 2004
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