Normal Hb A2β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A2’δ-Globin Gene Missense Mutation (HBD: c.49G>C)-Reference-Cited by-同舟云学术

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Normal Hb A2β-Thalassemia Trait: Frameshift Mutation (HBB: c.187_251dup) inCiswith the Hb A2’δ-Globin Gene Missense Mutation (HBD: c.49G>C)

Published:2013-02-11 Issue:2 Volume:37 Page:201-204
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Waye John S.,Eng Barry,Hellens Laurie,Hohenadel Betty-Ann,Nakamura Lisa M.,Walker Lynda

Publisher

Informa UK Limited

Subject

Biochemistry, medical,Clinical Biochemistry,Genetics(clinical),Hematology

Link

http://www.tandfonline.com/doi/pdf/10.3109/03630269.2012.763171

Reference8 articles.

1. Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

2. A 65 bp duplication/insertion in exon II of the -globin gene causing 0-thalassemia

3. Variation in Hemoglobin A2

4. Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics

5. Thalassemia Minor Associated with Hemoglobin-B2 Heterozygosity. A Family Report

Cited by 6 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. Hb A ₂ -Guangxi [δ79 (EF3) Asp→Asn, HBD : C.238G > A] and polyA + 70 ( HBD : C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family;Hemoglobin;2024-08-23

2. A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg, HBD : C.139G > A];Hemoglobin;2024-03-03

3. Phenotypic Expression of Known and Novel Hemoglobin A2-Variants, Hemoglobin A2-Mae Phrik [Delta 52(D3) Asp > Gly, HBD:c.158A > G], Associated with Hemoglobin E [Beta 26(B8) Glu > Lys, HBB:c.79G > A] in Thailand;Genes;2022-05-27

4. A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)];Hemoglobin;2016-04-27

5. Heterozygous β-thalassemia with complete absence of hemoglobin A2in a Chinese adult;International Journal of Laboratory Hematology;2015-06-11

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