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An unusual case of thalassemia intermedia with inheritable complex repeats detected by single-molecule optical mapping.

作者信息

Zhang Qianqian, Lin Peng, Mao Aiping, Liu Yongqiong, Shang Xuan, Wei Xiaofeng, Li Yuezhen, Lin Bin, Xu Xiangmin

机构信息

Department of Medical Genetics, School of Basic Medical Sciences; Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou 510515, Guangdong, China; Dongguan Maternal and Child Health Care Hospital, Postdoctoral Innovation Practice Base of Southern Medical University; Prenatal Diagnosis Center, Dongguan Maternal and Child Health Care Hospital, Dongguan 523001, Guangdong.

Department of TGS Research and Development, Berry Genomics Corporation, Beijing 102200.

出版信息

Haematologica. 2024 Mar 1;109(3):1000-1006. doi: 10.3324/haematol.2023.282902.

DOI:10.3324/haematol.2023.282902

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10905065/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed3c/10905065/ad8cd7937b9a/1091000.fig1.jpg

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引用本文的文献

[1]

Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis.

Arch Public Health. 2025-4-5

[2]

Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia.

BMC Pediatr. 2024-5-13

本文引用的文献

[1]

Molecular Detection of Alpha Thalassemia: A Review of Prevalent Techniques.

Medeni Med J. 2021

[2]

Optical genome mapping enables constitutional chromosomal aberration detection.

Am J Hum Genet. 2021-8-5

[3]

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

EBioMedicine. 2017-8-17

[4]

Update in the genetics of thalassemia: What clinicians need to know.

Best Pract Res Clin Obstet Gynaecol. 2017-2

[5]

Genomon ITDetector: a tool for somatic internal tandem duplication detection from cancer genome sequencing data.

Bioinformatics. 2015-1-1

[6]

Comparison of Sebia Capillarys Flex capillary electrophoresis with the BioRad Variant II high pressure liquid chromatography in the evaluation of hemoglobinopathies.

Clin Chim Acta. 2012-4-10

[7]

The three-dimensional folding of the α-globin gene domain reveals formation of chromatin globules.

Nat Struct Mol Biol. 2010-12-5

[8]

Controlling alpha-globin: a review of alpha-globin expression and its impact on beta-thalassemia.

Haematologica. 2008-12

[9]

Linear distance from the locus control region determines epsilon-globin transcriptional activity.

Mol Cell Biol. 2007-8

[10]

Transcriptional control thrown for a loop.

Curr Opin Genet Dev. 2006-10

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