Associated Papers
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
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
High erythropoietin may be associated with vascular complications in patients with secondary erythrocytosis caused by high oxygen affinity variant hemoglobin Coimbra.
Santos BC et al.
Blood Cells, Molecules & Diseases, 2019
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Bento C et al.
European Journal of Haematology, 2013
Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.
Jakubowska A et al.
Human Mutation, 2001
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