References
- Thein S. L., Hesketh C, Taylor P., Temperley I. J., Hutchinson R. M., Old J. M., Wood W. G., Clegg J. B., Weatherall D. J. Molecular basis for dominantly inherited inclusion body β-thalassemia. Proc. Natl. Acad. Sci. USA 1990; 87: 3924–3928
- Hall G. W., Franklin I. M., Sura T., Thein S. L. A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype. Br. J. Haematol. 1991; 79: 342–344
- Giordano P. C., Harteveld C. L., Michiels J. J., Terpstra W., Schelfhout L. J.D.M., Appel I. M., Batelaan D., vanDelft P., Plug R. J., Bemini L. F. Phenotype variability of the dominant β-thalassemia induced in four Dutch families by the rare cd 121 (G←T) mutation. Ann. Hemato.,1 1998; 77: 249–255
- Losekoot M., Fodde R., Harteveld C. L., vanHeeren H., Giordano P. C., Bernini L. F. Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to β-thalassemia. Br. J. Haematol. 1990; 76: 269–274
- Varawalla N. Y., Fitches A. C., Old J. M. Analysis of β-gene haplotypes in Asian Indians: origin and spread of β-thalassaemia on the Indian subcontinent. Hum. Genet. 1992; 90: 443–449
- Kazazian H. H., Jr., Orkin S. H., Boehm C D., Goff S. C., Wong C, Dowling C. E., Thein S. L., Hesketh C, Taylor P., Temperley I. J., Hutchinson R. M., Old J. M., Wood W. G., Clegg J. B., Weatherall D. J. Characterization of a spontaneous mutation to a beta-thalassemia allele. Proc. Natl. Acad. Sci. USA 1990; 87: 3924–3928
- Shaeffer J. R., Cohen R. E. Ubiquitin aldehyde increase adenosine triphosphate-dependent proteolysis of hemoglobin a-subunits in β-thalassemic hemolysates. Blood 1997; 90: 1300–1308