Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference23 articles.
1. Hemoglobinopathies worldwide: present and future;Weatherall;Curr. Mol. Med.,2008
2. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update;Giardine;Hum. Mutat.,2007
3. De novo deletion of the entire zeta-alpha globin gene cluster in a girl with Hb H disease;Waye JS;Blood,1995
4. De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia;Viprakasit;Br. J. Haematol.,2003
5. Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster;Liebhaber;Proc. Natl Acad. Sci. USA,1990
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. Update in the genetics of thalassemia: What clinicians need to know;Best Practice & Research Clinical Obstetrics & Gynaecology;2017-02
2. α+-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup];Hemoglobin;2015-04-21
3. α-Thalassemia Trait Caused by Frameshift Mutations in Exon 2 of theα2-Globin Gene: HBA2:c.131delT and HBA2:c.143delA;Hemoglobin;2012-06
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