Associated Papers
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
Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
Dissanayake R et al.
Bmc Pediatrics, 2022
Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia.
Saha D et al.
Hemoglobin, 2022
36000542 (PubMed )
Supplement: supplement_1.zip › IHEM_2088381_SuppFigureCaptions.pdf
Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations.
Aziz MA et al.
Hemoglobin, 2020
LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.
Zhang L et al.
Human Mutation, 2019
31286593 (PubMed )
Supplement: HUMU-40-2221-s002.docx
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
A Novel Mutation at HBB: c.91delA (Codon 30, -A) Causing β-Thalassemia in a Chinese Family.
Jia W et al.
Acta Haematologica, 2019
Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.
Abedini SS et al.
Hemoglobin, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele.
Schmugge M et al.
Hemoglobin, 2008
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites.
Sahashi K et al.
Nucleic Acids Research, 2007
17726045 (PubMed )
Supplement: nar_gkm647_3.pdf
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