Associated Papers
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
De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.
Melamed D et al.
Genome Research, 2022
Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.
Alyafee Y et al.
Frontiers in Genetics, 2022
First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients.
Mejri A et al.
Hemoglobin, 2016
Pathology consultation on HbA(1c) methods and interferences.
Rhea JM et al.
American Journal of Clinical Pathology, 2014
Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.
Sahoo SS et al.
Hemoglobin, 2014
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
Two new hemoglobin variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T].
Joly P et al.
Hemoglobin, 2011
Multiplex minisequencing screen for common Southeast Asian and Indian beta-thalassemia mutations.
Wang W et al.
Clinical Chemistry, 2003
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