A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00277-010-1002-5.pdf
Reference7 articles.
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3. Luo HY, Tang W, Eung SH, Coad JE, Canfield P, Keller F et al (2005) Dominantly inherited beta thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG). J Clin Pathol 58:1110–1112
4. Thein SL (1999) Is it dominantly inherited beta thalassaemia or just a beta-chain variant that is highly unstable? Br J Haematol 107:12–21
5. Cao A, Galanello R (2010) Beta-thalassemia. Genet Med 12:61–76
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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