Associated Papers
Utility of Molecular Sequencing and Hematologic Parameters for Diagnosis of α-Thalassemia: A Perspective of the National Reference Laboratory.
Shean R et al.
Hemoglobin, 2025
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
Ozalp O et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
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-HBA2
A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.
Khalil MSM et al.
Hemoglobin, 2020
Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.
de la Fuente-Gonzalo F et al.
Annals of Hematology, 2019
Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the δ gene at a Spanish centre.
Villegas A et al.
Journal of Clinical Pathology, 2017
[Delta⁰-thalassemia by insertion of 27 base pairs in δ-globin gene with decreased hemoglobin A₂ levels].
González Borrachero ML et al.
Medicina Clinica, 2015
Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example.
Wajcman H et al.
Hemoglobin, 0
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