Associated Papers
The distribution and spectrum of thalassemia variants in GUIYANG region, southern China.
Zhao X et al.
Orphanet Journal of Rare Diseases, 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-Full_dataset
First Report of Compound Heterozygosity for Hb S (HBB: c.20A>T) and Hb Haringey (HBB: c.131A>G).
Ogu UO et al.
Hemoglobin, 2021
Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka.
Perera S et al.
Scientific Reports, 2019
Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces.
Navío D et al.
International Journal of Molecular Sciences, 2019
Proteomic Profiling of Human Uterine Fibroids Reveals Upregulation of the Extracellular Matrix Protein Periostin.
Jamaluddin MFB et al.
Endocrinology, 2018
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
Prenatal and newborn screening for hemoglobinopathies.
Hoppe CC
International Journal of Laboratory Hematology, 2013
Molecular basis of β-thalassemia in the western province of Saudi Arabia: identification of rare β-thalassemia mutations.
Abuzenadah AM et al.
Hemoglobin, 2011
Profile of beta-thalassemia in eastern India and its prenatal diagnosis.
Bandyopadhyay A et al.
Prenatal Diagnosis, 2004
A multi-center study in order to further define the molecular basis of beta-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to develop a simple molecular diagnostic strategy by amplification refractory mutation system-polymerase chain reaction.
Old JM et al.
Hemoglobin, 2001
Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes.
Maragoudaki E et al.
British Journal of Haematology, 1999
Two beta-thalassemia mutations in Japan: codon 121 (GAA----TAA) and IVS-I-130 (G----C).
Yamamoto K et al.
Hemoglobin, 1992
Hb Hornchurch [β43(CD2)Glu→Lys; HBB: c.130G>A] Compromises the Molecular Diagnosis of β-Thalassemia in a Chinese Family.
Zhao Y et al.
Hemoglobin, 0
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