Associated Papers
Active spread of β-thalassemia beyond the thalassemia belt: A study on a Russian population.
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Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
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Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays.
Lin JH et al.
Frontiers in Genetics, 2021
34422003 (PubMed )
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Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China.
Zhao Y et al.
Hemoglobin, 2020
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.
Patsali P et al.
Journal of Clinical Medicine, 2019
31766235 (PubMed )
Supplement: jcm-08-01959-s001.pdf
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts.
Lin JH et al.
Human Mutation, 2019
Three new beta-thalassemia mutations with varying degrees of severity.
Frischknecht H et al.
Hemoglobin, 2009
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