Associated Papers
In silico analysis of substitution mutations in the β-globin gene in Turkish population of β-thalassemia.
Alkilani S et al.
Journal of Biomolecular Structure & Dynamics, 2023
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
The Clinical Significance of the Spectrum of Interactions of the Rare IVS-II-5 G>C (HBB: c.315+5 G>C) Variation with Other β-Thalassemia Mutations in Southern China.
Liao G et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2022
Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.
Zhuang J et al.
Frontiers in Genetics, 2021
Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain.
Scheps KG et al.
European Journal of Haematology, 2018
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
Chan OT et al.
American Journal of Clinical Pathology, 2010
Three new beta-globin gene promoter mutations identified through newborn screening.
Eng B et al.
Hemoglobin, 2007
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler AD et al.
Human Mutation, 2006
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