Associated Papers
Case report and characterization of a Brazilian family with a rare hemoglobin variant-Hb Maputo.
Santos EA et al.
Hematology, Transfusion and Cell Therapy, 2024
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
Serendipitous detection of Hemoglobin G-Ferrara variant with Sysmex DIFF channel.
Rosetti M et al.
Clinical Biochemistry, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Clinical and molecular characterization of hemoglobin Maputo [beta 47 (CD6) Asp > Tyr HBB: c.142G > T] and G-Ferrara [beta 57 (E1) Asn > Lys HBB: c.174C > A] in a newborn screening in Brazil.
Silva MR et al.
International Journal of Laboratory Hematology, 2013
Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.
De Angioletti M et al.
Human Mutation, 2002
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