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Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes.

作者信息

Ngole Mamy, Mbayabo Gloire, Lumbala Paul, Race Valerie, Mvuama Nono, Deman Stephanie, Souche Erika, Lukusa Prosper Tshilobo, Van Geet Chris, Devriendt Koenraad, Matthijs Gert, Lumaka Aimé, Cleynen Isabelle

机构信息

Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium.

Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.

出版信息

Mediterr J Hematol Infect Dis. 2025 Jan 1;17(1):e2025001. doi: 10.4084/MJHID.2025.001. eCollection 2025.

DOI:10.4084/MJHID.2025.001
PMID:39830798
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11740915/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e9d/11740915/cbeb0713e839/mjhid-17-1-e2025001f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e9d/11740915/cbeb0713e839/mjhid-17-1-e2025001f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7e9d/11740915/cbeb0713e839/mjhid-17-1-e2025001f1.jpg

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J Clin Lab Anal. 2022 May;36(5):e24398. doi: 10.1002/jcla.24398. Epub 2022 Apr 11.
2
Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.个性化医疗时代镰状细胞病的诊断与HBB单倍型分析：新一代测序的作用
J Pers Med. 2021 May 23;11(6):454. doi: 10.3390/jpm11060454.
3
Evolutionary history of sickle-cell mutation: implications for global genetic medicine.
镰状细胞突变的进化史：对全球遗传医学的影响。
Hum Mol Genet. 2021 Apr 26;30(R1):R119-R128. doi: 10.1093/hmg/ddab004.
4
Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa.在撒哈拉以南非洲，用羟脲治疗镰状细胞贫血儿童。
N Engl J Med. 2019 Jan 10;380(2):121-131. doi: 10.1056/NEJMoa1813598. Epub 2018 Dec 1.
5
A phased SNP-based classification of sickle cell anemia HBB haplotypes.基于单核苷酸多态性（SNP）的镰状细胞贫血HBB单倍型的阶段性分类。
BMC Genomics. 2017 Aug 11;18(1):608. doi: 10.1186/s12864-017-4013-y.
6
Clinical phenotypes and the biological parameters of Congolese patients suffering from sickle cell anemia: A first report from Central Africa.患有镰状细胞贫血的刚果患者的临床表型和生物学参数：来自中非的首份报告。
J Clin Lab Anal. 2017 Nov;31(6). doi: 10.1002/jcla.22140. Epub 2017 Jan 23.
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Identification of β-globin haplotypes linked to sickle hemoglobin (Hb S) alleles in Mazandaran province, Iran.伊朗马赞德兰省与镰状血红蛋白（Hb S）等位基因相关的β-珠蛋白单倍型的鉴定。
Genes Genet Syst. 2017 May 13;91(6):311-313. doi: 10.1266/ggs.16-00005. Epub 2016 Dec 21.
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Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs).使用分子反转探针（MIP）进行靶向捕获和高通量测序。
Methods Mol Biol. 2017;1492:95-106. doi: 10.1007/978-1-4939-6442-0_6.
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OMICS. 2015 Mar;19(3):171-9. doi: 10.1089/omi.2014.0134.
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