A promoter mutation, C → T at position -92, leading to silent /3-thalassaemia
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1995.tb05182.x/fullpdf
Reference8 articles.
1. A mild type of Hb S-/?+-thalassemia [-92(C -? T)l in a Sicilian family;Divoky;American Journal of Hematology,1993
2. Analysis of /?-thalassemia mutant DNA interactions with erythroid Kriippel-like factor (EKLF), and erythroid cell-specific transcription factor;Feng;Journal of Biological Chemistry,1994
3. AC-T substitution at nt -101 in a conserved DNA sequence of the promoter region of the /3-globin gene is associated with ‘silent’ /^-thalassemia;Gonzales-Redondo;Blood,1989
4. AC-tG mutation at nt position 6 3' to the terminating codon may be the cause of a silent /3-thalassemia;Jankovic;International Journal of Hematology,1991
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1. Novel Promoter Mutation (HBB:C.-139_-138del) Associated with β-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China;Hemoglobin;2023-01-02
2. Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers;Mutation Research/Reviews in Mutation Research;2021-07
3. First Report of β-Thalassemia Intermedia in a Patient Compound Heterozygous for –92 (C>T) and Codons 36/37 (–T) Mutations;Hemoglobin;2018-06-12
4. Very mild forms of Hb S/beta+-thalassemia in Brazilian children;Revista Brasileira de Hematologia e Hemoterapia;2015-05
5. Two new β+-thalassemia mutation [β -56 (G → C); HBBc. −106 G → C] and [β −83 (G → A); HBBc. −133 G → A] described among the Tunisian population;American Journal of Human Biology;2015-03-07
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