First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family-Reference-Cited by-同舟云学术

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First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family

Published:2017-11-02 Issue:4-6 Volume:41 Page:286-287
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Jiang Fan¹,Chen Gui-Lan¹,Zhou Jian-Ying¹,Li Dong-Zhi¹

Affiliation:

1. Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong Province, People’s Republic of China

Funder

Guangdong Provincial Department of Science and Technology Agency

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2017.1408647

Reference9 articles.

1. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

2. β-Thalassemia

3. Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia.

4. Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.

5. Three β-Thalassemia Mutations in the Japanese: IVS-II-1 (G→A). IVS-II-848 (C→G), and Cooon 90 (GAG→TAG)

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. First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family;Hemoglobin;2019-01-02

2. A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC);Hemoglobin;2018-05-04

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