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-Full_dataset
IVS-II-16 (G>C) (HBB: c.315+16G>C) or IVS-II-666 (C>T) (HBB: c.316-185C>T) Mutations Trigger an Hb S (HBB: c.20A>T)/β+-Thalassemia Phenotype in an Hb S Trait Patient.
Uçucu S et al.
Hemoglobin, 2021
Clinical Laboratory Manifestation and Molecular Diagnosis of β-Thalassemia Patients in Iraq.
AlMosawi RHN et al.
Journal of Pediatric Hematology/oncology, 2020
Cellular function reinstitution of offspring red blood cells cloned from the sickle cell disease patient blood post CRISPR genome editing.
Wen J et al.
Journal of Hematology & Oncology, 2017
Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.
van Zwieten R 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
Hb S-São Paulo: a new sickling hemoglobin with stable polymers and decreased oxygen affinity.
Jorge SE et al.
Archives of Biochemistry and Biophysics, 2012
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.
Dupradeau FY et al.
Human Mutation, 2008
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