Associated Papers
Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China.
Zhang H et al.
Human Genomics, 2025
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-HBB
Novel, de novo, beta-globin variant with decreased oxygen affinity (HBB:c.317T>A, "Hemoglobin St. George") in a healthy child with low oxygen saturations and anemia.
Meznarich JA et al.
American Journal of Hematology, 2021
Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.
Arpaci A et al.
Annals of Hematology, 2021
A new (G)γ-globin variant causing low oxygen affinity: Hb F-Brugine/Feldkirch [(G)γ105(G7)Leu→His; HBG2: c.317T>A].
Saller E et al.
Hemoglobin, 2014
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
Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.
Alvarez-Dominguez JR et al.
The Journal of Biological Chemistry, 2013
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