A novel mutation of −50 (G→A) in the direct repeat element of the β-globin gene identified in a patient with severe β-thalassemia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Hematology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00277-009-0732-8.pdf
Reference7 articles.
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2. Clark BE, Thein SL (2004) Molecular diagnosis of heamoglobin disorders. Clin Lab Haematol 26:159–176. doi: 10.1111/j.1365-2257.2004.00607.x
3. Xu XM, Zhou YQ, Luo GX et al (2004) The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol 57:517–522. doi: 10.1136/jcp. 2003.014456
4. Chen XW, Mo QH, Li Q, Zeng R, Xu XM (2007) A novel mutation of −73 (A→T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia. Ann Hematol 86:653–657. doi: 10.1007/s00277-007-0312-8
5. Li Q, Fang X, Olave I et al (2006) Transcriptional potential of the γ-globin gene is dependent on the CACCC box in a developmental stage-specific manner. Nucleic Acids Res 34:3909–3916. doi: 10.1093/nar/gkl474
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