First Report of β-Thalassemia Intermedia in a Patient Compound Heterozygous for –92 (C>T) and Codons 36/37 (–T) Mutations
Author:
Affiliation:
1. Department of Haemopoietic Pathologies, Institute of Haematology and Blood Transfusion, Baku, Azerbaijan
Publisher
Informa UK Limited
Subject
Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology
Link
https://www.tandfonline.com/doi/pdf/10.1080/03630269.2018.1470534
Reference9 articles.
1. A mild type of Hb S-β+-thalassemia [-92(C→T)] in a sicilian family
2. Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T
3. A promoter mutation, C → T at position -92, leading to silent /3-thalassaemia
4. Identification of the -92 (C→T) Mutation by the Amplification Refractory Mutation Sym in Southern Italy
5. Very mild forms of Hb S/beta+-thalassemia in Brazilian children
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1. Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations;Annals of Human Genetics;2019-11-21
2. A Novel Frameshift Mutation at Codon 2 (–T) (HBB: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan;Hemoglobin;2019-09-03
3. Hb Knossos (HBB: c.82G > T), β-globin CD 5 (−CT) (HBB: c.17_18delCT) and δ-globin CD 59 (−a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia;BMC Pediatrics;2019-02-18
4. Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan;Hemoglobin;2018-07-04
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