Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α0-thalassemia by targeted next-generation sequencing-Reference-Cited by-同舟云学术

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

Published:2020-01-02 Issue:2 Volume:295 Page:505-514
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Li Zhiming,Shang Xuan,Luo Shiqiang,Zhu Fei,Wei Xiaofeng,Zhou Wanjun,Ye Yuhua,Yan Tizhen,Cai Ren,Xu Xiangmin

Funder

National Key R&D Program of China

Natural Science Foundation of China

Natural Science Foundation of Guangdong Province

Guangxi health and family planning commission self-funding project

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00438-019-01637-w.pdf

Reference27 articles.

1. Bernet A, Sabatier S, Picketts DJ, Ouazana R, Morle F, Higgs DR, Godet J (1995) Targeted inactivation of the major positive regulatory element (HS-40) of the human alpha-globin gene locus. Blood 86:1202–1211

2. Coelho A, Picanco I, Seuanes F, Seixas MT, Faustino P (2010) Novel large deletions in the human alpha-globin gene cluster: clarifying the HS-40 long-range regulatory role in the native chromosome environment. Blood Cells Mol Dis 45:147–153

3. Deininger P (2011) Alu elements: know the SINEs. Genome Biol 12:236

4. Farashi S, Harteveld CL (2018) Molecular basis of alpha-thalassemia. Blood Cells Mol Dis 70:43–53

5. Flint J, Thomas K, Micklem G, Raynham H, Clark K, Doggett NA, King A, Higgs DR (1997) The relationship between chromosome structure and function at a human telomeric region. Nat Genet 15:252–257

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1. A novel α⁰‐thalassemia deletion in a Brazilian child with Hb H disease: −−^Mococa;International Journal of Laboratory Hematology;2024-04-03

2. Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing;Blood Cells, Molecules, and Diseases;2023-11

3. Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience;Indian Journal of Hematology and Blood Transfusion;2023-10-03

4. Identification of a novel 91.5 kb-deletion (αα) ^FJ in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing;The Journal of Maternal-Fetal & Neonatal Medicine;2023-09-06

5. Two large novel alpha-globin gene cluster deletions causing alpha(0)-thalassemia in two Chinese families;Gene;2022-10

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