Compound heterozygosity for a rare small deletion and a common point mutation in the beta-globin gene: report of two Chinese families
Author:
Publisher
Wiley
Subject
Biochemistry (medical),Clinical Biochemistry,Hematology,General Medicine
Reference15 articles.
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2. Two beta-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin;Bandyopadhyay;European Journal of Haematology,2005
3. Prevalence survey and molecular characterization of alpha and beta thalassemia in Liuzhou city of Guangxi;Cai;Zhonghua Liu Xing Bing Xue Za Zhi,2002
4. Thalassemia intermedia as a result of heterozygosis for beta 0 -thalassemia and alpha alpha alpha anti-3,7 genotype in a Brazilian patient;Kimura;Brazilian Journal of Medical and Biological Research,2003
5. Two new beta0-thalassemic mutations: a deletion (-CC) at codon 142 or overlapping codons 142-143, and an insertion (+T) at codon 45 or overlapping codons 44-45/45-46 of the beta-globin gene;Lacan;Hemoglobin,2007
Cited by 3 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. A novel 223 kb deletion in the beta‐globin gene cluster was identified in a Chinese thalassemia major patient;International Journal of Laboratory Hematology;2019-04-04
2. Update in the genetics of thalassemia: What clinicians need to know;Best Practice & Research Clinical Obstetrics & Gynaecology;2017-02
3. β-Globin Genes: Mutation Hot-Spots in the Global Thalassemia Belt;Hemoglobin;2014-12-19
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