A novel beta-globin mutation (HBB:c.107A>G; or codon 35 β (A→G)) at alpha–beta chain interfaces
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00277-009-0760-4.pdf
Reference7 articles.
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3. Kavanaugh SJ, Weydert JA, Rogers PH, Arnone A, Hui HL, Wierzba AM, Kwiatkowski LD, Paily P, Noble RW, Bruno S, Mozzarelli A (2001) Site directed mutations of human hemoglobin at residue 35. A residue at the intersection of the α1β1, α1β2 and α1α2 interfaces. Protein Sci 10:1847–1855. doi: 10.1110/ps.16401
4. Yasunaga M, Fujiyama Y, Miyagawa A, Inoue T, Andoh A, Hodohara K, Bamba T, Inoue T, Yawata Y, Harano K, Harano T (1995) Thalassemia incidentally found by marked erythrocytosis due to an ochre mutation at codon 35 in a Japanese man. Int Med 34:1198–2000. doi: 10.2169/internalmedicine.34.1198
5. Yang KG, Kutlar F, George E, Wilson JB, Kutlar A, Stoming TA, Gonzalez-Redondo JM, Huisman TH (1989) Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major. Br J Haematol 72:73–80. doi: 10.1111/j.1365-2141.1989.tb07655.x
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Prevalence of beta thalassemia carriers in India: a systematic review and meta-analysis;Journal of Community Genetics;2023-10-20
2. The Codon 35 (A > G) (HBB: c.107A > G) at theα-βChain Interface of theβ-Globin Gene: A Silent Mutation?;Hemoglobin;2015-11-02
3. LETTER TO THE EDITOR: A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major;International Journal of Laboratory Hematology;2010-08-23
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