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
Hematological and molecular characteristics of a novel α-globin variant Hb Liangqing (HBA2:c.224A>G).
Li Y et al.
Hematology (amsterdam, Netherlands), 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
Hb Jishui [HBA1: c.225C>G, Codon 74 (GAC>GAG), Asp→Glu]: A Novel α Chain Hemoglobin Variant Detected During Hb A1c Measurement.
Xie W et al.
Hemoglobin, 2021
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
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