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Literature DB >> 28743121

A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major α-Globin Regulatory Element (MCS-R2) and α0-Thalassemia.

Lv-Yin Huang¹, Jin-Mei Yan, Jian-Ying Zhou, Jian Li, Xing-Mei Xie, Dong-Zhi Li.

Abstract

Entities: Disease

Mesh：

Substances：
alpha-Globins

Year: 2017 PMID： 28743121 DOI： 10.1159/000477531

Source DB: PubMed Journal: Acta Haematol ISSN： 0001-5792 Impact factor: 2.195

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1 in total

1. Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α⁰-thalassemia by targeted next-generation sequencing.

Authors: Zhiming Li; Xuan Shang; Shiqiang Luo; Fei Zhu; Xiaofeng Wei; Wanjun Zhou; Yuhua Ye; Tizhen Yan; Ren Cai; Xiangmin Xu
Journal: Mol Genet Genomics Date: 2020-01-02 Impact factor: 3.291

1 in total

A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major α-Globin Regulatory Element (MCS-R2) and α0-Thalassemia.

1. Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α0-thalassemia by targeted next-generation sequencing.

1. Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α⁰-thalassemia by targeted next-generation sequencing.