The Thalassemia Repository (Ninth Edition; Part II)
作者： T. H.J. Huisman , M. F.H. Carver
DOI: 10.3109/03630269809113144
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informahealthcare.com 参考文章(145)
K. Indrak, Y.-C. Gu, J. Novotny, T. H. J. Huisman, A new α‐thalassemia‐2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote American Journal of Hematology. ,vol. 43, pp. 144- 145 ,(1993) , 10.1002/AJH.2830430214
R. J. Trent, L. Svirklys, P. Jones, Thai (δβ)°-Thalassemia and its Lnteraction with γ-Thalassemia Hemoglobin. ,vol. 12, pp. 101- 114 ,(1988) , 10.3109/03630268808998017
L. Pressley, D. R. Higgs, J. B. Clegg, D. J. Weatherall, Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 77, pp. 3586- 3589 ,(1980) , 10.1073/PNAS.77.6.3586
R.W. Jones, J.M. Old, R.J. Trent, J.B. Clegg, D.J. Weatherall, Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia. Nucleic Acids Research. ,vol. 9, pp. 6813- 6825 ,(1981) , 10.1093/NAR/9.24.6813
S. H. Orkin, S. C. Goff, R. L. Hechtman, Mutation in an intervening sequence splice junction in man Proceedings of the National Academy of Sciences of the United States of America. ,vol. 78, pp. 5041- 5045 ,(1981) , 10.1073/PNAS.78.8.5041
K. Indrak, J. Indrakova, F. Kutlar, D. Pospisilova, I. Sulovska, E. Baysal, T. H. J. Huisman, Compound heterozygosity for a β∘-thalassemia (frameshift codons 38/39; -C) and a nondeletional swiss type of HPFH (A→C at NT -110, Gγ) in a Czechoslovakian family Annals of Hematology. ,vol. 63, pp. 111- 115 ,(1991) , 10.1007/BF01707283
S H Orkin, B P Alter, C Altay, Deletion of the A gamma-globin gene in G gamma-delta beta-thalassemia. Journal of Clinical Investigation. ,vol. 64, pp. 866- 869 ,(1979) , 10.1172/JCI109535
P Moi, F E Cash, S A Liebhaber, A Cao, M Pirastu, An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype. Journal of Clinical Investigation. ,vol. 80, pp. 1416- 1421 ,(1987) , 10.1172/JCI113220
D. D. Pobedimskaya, T. P. Molchanova, S. Streichman, T. H. J. Huisman, Compound heterozygosity for two α‐globin gene defects, Hb taybe (α1; 38 or 39 minus thr) and a poly a mutation (α2; AATAAA → AATAAG), results in a severe hemolytic anemia American Journal of Hematology. ,vol. 47, pp. 198- 202 ,(1994) , 10.1002/AJH.2830470310
M. A. Çürük, A. J. Dimovski, E. Baysal, L-H. Gu, F. Kutlar, T. P. Molchanova, B. B. Webber, Ç. Altay, A. Gürgey, T. H. J. Huisman, Hb Adana or α259(E8)Gly→Aspβ2, a severely unstable α1-globin variant, observed in combination with the -(α)20.5 KB α-Thal-1 deletion in two Turkish patients American Journal of Hematology. ,vol. 44, pp. 270- 275 ,(1993) , 10.1002/AJH.2830440410