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Hemoglobin
international journal for hemoglobin research
Volume 17, 1993 - Issue 6
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Original Article

A Novel β-Thalassemia Mutation [IVS-II-5 (G→C)] in a Chinese Family from Guangxi Province, P. R. China

N. H. Jiang Hemoglobinopathy Laboratory Department of Pediatrics, Medical College of Guangxi, Guangxi, PR China
,
S. Liang Hemoglobinopathy Laboratory Department of Pediatrics, Medical College of Guangxi, Guangxi, PR China
,
C. Su Hemoglobinopathy Laboratory Department of Pediatrics, Medical College of Guangxi, Guangxi, PR China
,
J. F. Nechtman Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
&
T. A. Stoming Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
Pages 563-567 | Received 24 Mar 1993, Accepted 07 Sep 1993, Published online: 07 Jul 2009

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Yuling Qiu, Shilu Wei, Wei Hou, Ketong Lai, Hengying Zhu, Wenwei Li, Qi Li, Zheng Yang, Qisheng Shu, Ping Chen & Wuning Mo. (2023) Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare β-Globin Mutations. Hemoglobin 47:2, pages 52-55.
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Lin Zhao, Jilin Qing, Yue Liang & Zhizhong Chen. (2016) A novel compound heterozygosity in Southern China: IVS-II-5 (G > C) and IVS-II-672 (A > C). Hemoglobin 40:6, pages 428-430.
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N. H. Jiang & S. Liang. (1999) The β+-thalassemia mutation [IVS-II-5 (G→C)] creates an alternative splicing site in the second intervening sequence. Hemoglobin 23:2, pages 171-176.
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T. H. J. Huisman & M. F. H. Carver. (1998) The β-and -Thalassemia Repository (Ninth Edition; Part I). Hemoglobin 22:2, pages 169-195.
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Articles from other publishers (6)

Shiqiang Luo, Xingyuan Chen, Dingyuan Zeng, Ning Tang, Dejian Yuan, Qingyan Zhong, Aiping Mao, Ruofan Xu & Tizhen Yan. (2021) The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation. Journal of Human Genetics 67:4, pages 183-195.
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Petros Patsali, Claudio Mussolino, Petros Ladas, Argyro Floga, Annita Kolnagou, Soteroula Christou, Maria Sitarou, Michael N. Antoniou, Toni Cathomen, Carsten Werner Lederer & Marina Kleanthous. (2019) The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements. Journal of Clinical Medicine 8:11, pages 1959.
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Maria De Angioletti, Giuseppina Lacerra, Carlo Gaudiano, Gabriella Mastrolonardo, Leonilde Pagano, Lucia Mastrullo, Santa Masciandaro & Clementina Carestia. (2002) Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features. Human Mutation 20:5, pages 358-367.
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D.J. Weatherall & J.B. Clegg. 2001. The Thalassaemia Syndromes. The Thalassaemia Syndromes 733 821 .
XIANGMIN Xu, CAN LIAO, ZHONGYING LIU, JIAN LI, ZHAOHUI PENG, LUO‐LIN QIU & JIZENG ZHANG. (2008) A novel amber mutation in a β°‐thalassaemia gene (β 37 TGG→TAG), with direct detection by mapping the restriction fragments in amplified genomic DNA . British Journal of Haematology 90:4, pages 960-962.
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R. Liang, S. Liang, N. H. Jiang, X‐J. Wen, J‐B. Zhao, J. F. Nechtman, T. A. Stoming & T. H. J. Huisman. (2008) α and β thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization. British Journal of Haematology 86:2, pages 351-354.
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