Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation
Author:
Publisher
Wiley
Subject
Biochemistry, medical,Clinical Biochemistry,Hematology,General Medicine
Reference11 articles.
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2. A novel beta-Thalassemic allele due to a two nucleotide deletion: beta76 (-GC);Foulon;Hemoglobin,2007
3. Three new beta-thalassemia mutations with varying degrees of severity;Frischknecht;Hemoglobin,2009
4. A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA);Ghedira;Hemoglobin,2011
5. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update;Giardine;Human Mutation,2007
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. β-Thalassemia Major Resulting from Compound Heterozygosity forHBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a Novel β0-Thalassemia Frameshift Mutation:HBB: c.209delG; p.Gly70Valfs*20;Hemoglobin;2014-07-02
2. A Novel β0-Thalassemia Frameshift Mutation: [HBB:c.216delT];Hemoglobin;2012-08
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