| 1 | ATHAL, HBZ
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| A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.
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| De Gobbi M, Viprakasit V, Hughes JR, Fisher C, Buckle VJ, Ayyub H, Gibbons RJ, Vernimmen D, Yoshinaga Y, de Jong P, Cheng JF, Rubin EM, Wood WG, Bowden D, Higgs DR.
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| Science 312(5777):1215-7. 2006
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| 2 | 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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| 3 | RHBDF1, ATHAL, LCR-HBA@
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| Homology of a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse.
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| Kielman MF, Smits R, Devi TS, Fodde R, Bernini LF.
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| Mamm Genome 4(6):314-23. 1993
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| 4 | ATHAL, LCR-HBA@
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| Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.
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| Hatton CS, Wilkie AO, Drysdale HC, Wood WG, Vickers MA, Sharpe J, Ayyub H, Pretorius IM, Buckle VJ, Higgs DR.
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| Blood 76(1):221-7. 1990
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