| 1 | BTHAL, HBB
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| A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.
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| Chen D, Zuo Y, Zhang X, Ye Y, Bao X, Huang H, Tepakhan W, Wang L, Ju J, Chen G, Zheng M, Liu D, Huang S, Zong L, Li C, Chen Y, Zheng C, Shi L, Zhao Q, Wu Q, Fucharoen S, Zhao C, Xu X.
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| Am J Hum Genet 101(1):130-138. doi: 10.1016/j.ajhg.2017.05.012. Epub 2017 Jun 29.
2017
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| 2 | BTHAL, HBB
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| The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.
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| Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L.
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| Eur J Med Genet 59(8):355-62. doi: 10.1016/j.ejmg.2016.05.016. Epub 2016 Jun 1.
2016
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| 3 | BTHAL, HBB
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| β-globin genes: mutation hot-spots in the global thalassemia belt.
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| Kumar R, Sagar C, Sharma D, Kishor P.
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| Hemoglobin 39(1):1-8. doi: 10.3109/03630269.2014.985831. Epub 2014 Dec 19. Review.
2015
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| 4 | BTHAL, HBB
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| Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.
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| Bilgen T, Clark OA, Ozturk Z, Akif Yesilipek M, Keser I.
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| Int J Lab Hematol 35(1):26-30. doi: 10.1111/j.1751-553X.2012.01456.x. Epub 2012 Aug 2.
2013
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| 5 | BTHAL, HBS1L, MYB, SICA
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| Discovering the genetics underlying foetal haemoglobin production in adults.
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| Thein SL, Menzel S.
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| Br J Haematol 145(4):455-67. Epub 2008 Mar 2. Review.PMID: 19344402 2009
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| 6 | BTHAL, HBB
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| Molecular mechanism of beta-thalassaemia caused by 22-bp duplication.
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| Svasti S, Boonchoy C, Vanichsetakul P, Winichagoon P, Fucharoen S.
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| Ann Hematol 87(8):633-7. Epub 2008 Apr 5.PMID: 18392622 2008
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| 7 | BTHAL, HBB
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| Identification of a novel frameshift mutation at codon 53 (-T) in the beta-globin gene causing dominantly inherited beta-thalassemia in a Chinese Miao family.
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| Yi P, Yu F, Huang S, Zhong C, Li Q, Yang Y, Zhang W, Xiao C, Xu X.
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| Blood Cells Mol Dis 41(1):56-9. Epub 2008 Apr 1.PMID: 18381244 2008
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| 8 | ATHAL, BTHAL
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| Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.
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| Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC.
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| J Med Genet 42(12):922-31. Epub 2005 May 13. 2005
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