Homozygosity for the Severe β+-Thalassemia Mutation [IVS-I-5 (G>C)] Causes the Phenotype of Thalassemia Trait: An Extremely Rare Presentation
Author:
Publisher
Informa UK Limited
Subject
Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology
Link
http://www.tandfonline.com/doi/pdf/10.3109/03630269.2012.751395
Reference9 articles.
1. Relationship between the severity of β-thalassaemia syndromes and the number of alleviating mutations
2. Detection of a Rare β-Globin Nonsense Mutation [Codon 59 (AAG→TAG)] in an Italian Family
3. THE TRIPLICATED ALPHA-GENE LOCUS AND HETEROZYGOUS BETA THALASSAEMIA: A CASE OF THALASSAEMIA INTERMEDIA
4. Effect of α-Gene Numbers on the Expression of β-Thalassemia intermedia, β-Thalassemia and (δβ)⁰-Thalassemia Traits
5. Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
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1. Pregnancy and Childbirth: An Unexpected Cakewalk for a Mother With Beta Thalassemia Major Homozygous for IVS (G-C) Mutation;Cureus;2021-03-13
2. Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity;Orphanet Journal of Rare Diseases;2020-07-06
3. The Sickle β-Thalassemia Phenotype;Journal of Pediatric Hematology/Oncology;2017-07
4. Molecular Characterisation ofα- andβ-Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysia;Annals of Human Genetics;2017-06-16
5. Detection of β-Thalassemia Mutations Using TaqMan Single Nucleotide Polymorphism Genotyping Assays;Genetic Testing and Molecular Biomarkers;2016-03
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