Associated Papers
Mutation Spectrum of β-Thalassemia in Some Ethnic Groups of North Maharashtra, India.
Kumar R et al.
Hemoglobin, 2023
MALDI-TOF-MS for Rapid Screening and Typing of β-Globin Variant and β-Thalassemia through Direct Measurements of Intact Globin Chains.
Zhang Q et al.
Clinical Chemistry, 2022
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
A Coincidental Discovery of a New Stable Variant (Hb Hachioji or HBB: c.187C>T) in a Patient with Chronic Hemolytic Anemia of Unexplained Origin.
Mella F et al.
Hemoglobin, 2018
Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia.
Pedroso GA et al.
Hemoglobin, 2017
Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia.
Farashi S et al.
Hemoglobin, 2015
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
Hb Ashburton [β12(A9)Thr → Pro; HBB: c.37A > C], a novel, mildly unstable variant and the first substitution identified at codon 12.
Brennan SO et al.
Hemoglobin, 2014
Hb Manukau [β67(E11)Val → Gly; HBB: c.203T>G]: the role of genetic testing in the diagnosis of idiopathic hemolytic anemia.
Kumar MK et al.
Hemoglobin, 2014
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