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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 3
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Original Article

Clinical Genotyping by Next Generation Sequencing Reveals a Novel, De Novo β-Globin Gene Mutation Causing Hemolytic Anemia in a Chinese Individual

Jiajie PuDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province, People’s Republic of ChinaORCID Iconhttp://orcid.org/0000-0002-3638-9228View further author information
ORCID Icon,
Li ZhangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province, People’s Republic of ChinaView further author information
,
Xiaofeng WeiDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province, People’s Republic of ChinaView further author information
&
Xiangmin XuDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province, People’s Republic of ChinaCorrespondence[email protected] [email protected]
View further author information
Pages 184-188 | Received 20 Mar 2018, Accepted 07 Jun 2018, Published online: 02 Oct 2018

Citations (5)

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Ekaterina Demidova, Valentina Salomashkina, Daria Selivanova, Evgeny Litvin, Natalia Karamyan, Svetlana Mann, Valentina Dvirnyk, Salia Maryina, Natal’ya Petrova, Lana Gorgidze, Anastasiya Peredel’skaya, Nina Tsvetaeva, Nataliya Smetanina & Vadim Surin. (2023) Hb Ryazan: An Elongated C‐Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25. Hemoglobin 47:2, pages 97-101.
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Huan-Qing Chen, Li-Sha Wu, Fan Jiang & Dong-Zhi Li. (2021) Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report. Hemoglobin 45:5, pages 329-331.
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Dilek Gürlek-Gökçebay, Sibel Akpinar-Tekgunduz, Haktan B. Erdem & Nese Yarali. (2019) A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child. Hemoglobin 43:4-5, pages 277-279.
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Articles from other publishers (2)

Xiaoman Zhou, Tongtong Chen, Qianqian Zhang, Ming Qi, Li Zhang, Juping Du, Hongbo Chi, Bo Shen, Xiangmin Xu & Yang Lu. (2021) De novo HBB frameshift mutation in a patient with dominant β‐thalassemia major. International Journal of Laboratory Hematology 44:1.
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Iacopo Iacomelli, Giuseppina Barberio, Piero Pucci, Vittoria Monaco, Massimo Maffei, Massimo Mogni, Cristina Curcio, Sauro Maoggi, Chiara Giulietti, Cornelis L. Harteveld & Giovanni Ivaldi. (2021) Hemoglobin Yamagata [β132(H10)Lys→Asn; ( HBB : c.399A>T)]: a mosaic to be put together . Clinical Chemistry and Laboratory Medicine (CCLM) 59:10, pages 1670-1679.
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