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Beta-thalassaemia: molecular pathogenesis and clinical variability.

作者信息

Kulozik A E

机构信息

Department of Paediatrics II, University of Ulm, Federal Republic of Germany.

出版信息

Eur J Pediatr. 1992 Feb;151(2):78-84. doi: 10.1007/BF01958947.

DOI:10.1007/BF01958947

PMID:1537367

Abstract

摘要

相似文献

Beta-thalassaemia: molecular pathogenesis and clinical variability.

Eur J Pediatr. 1992 Feb;151(2):78-84. doi: 10.1007/BF01958947.

Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

J Med Genet. 1988 May;25(5):307-10. doi: 10.1136/jmg.25.5.307.

Diagnosis and prevention of thalassemia.

Crit Rev Clin Lab Sci. 2013 Nov;50(6):125-41. doi: 10.3109/10408363.2013.847236.

The molecular genetics of thalassemia.

Adv Hum Genet. 1981;11:233-80. doi: 10.1007/978-1-4615-8303-5_4.

Gene defects in beta-thalassemia and their prenatal diagnosis.

Ann N Y Acad Sci. 1990;612:1-14. doi: 10.1111/j.1749-6632.1990.tb24285.x.

Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms.

Nature. 1980 May 15;285(5761):144-7. doi: 10.1038/285144a0.

Haemoglobinopathies.

Prenat Diagn. 1996 Dec;16(13):1181-6. doi: 10.1002/(SICI)1097-0223(199612)16:13<1181::AID-PD93>3.0.CO;2-N.

The molecular basis for the clinical diversity of beta thalassaemia in Cypriots.

Lancet. 1983 Jun 4;1(8336):1235-7. doi: 10.1016/s0140-6736(83)92694-6.

The mutational basis of the thalassemia syndromes.

Prog Med Genet. 1977;2:165-204.

Haematological phenotypes in a family with triplicated alpha-globin gene, beta zero 39 and delta+27 thalassaemia mutations.

Clin Lab Haematol. 1992;14(4):289-92.

引用本文的文献

Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia.

Ann Hematol. 1993 Jan;66(1):51-4. doi: 10.1007/BF01737689.

本文引用的文献

Alpha-thalassemia in two Mediterranean populations.

Blood. 1982 Aug;60(2):509-12.

The triplicated alpha-gene locus and heterozygous beta thalassaemia: a case of thalassaemia intermedia.

Br J Haematol. 1983 Dec;55(4):709-10. doi: 10.1111/j.1365-2141.1983.tb02854.x.

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

Cell. 1983 Dec;35(3 Pt 2):701-9. doi: 10.1016/0092-8674(83)90103-4.

Thalassaemia intermedia: a new molecular basis.

Br J Haematol. 1984 Feb;56(2):333-7. doi: 10.1111/j.1365-2141.1984.tb03960.x.

Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia.

Br J Haematol. 1983 Mar;53(3):411-6. doi: 10.1111/j.1365-2141.1983.tb02041.x.

The molecular basis for beta o thalassaemia intermedia in an Iranian individual.

Br J Haematol. 1982 Nov;52(3):511-6. doi: 10.1111/j.1365-2141.1982.tb03921.x.

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene.

Proc Natl Acad Sci U S A. 1981 Apr;78(4):2455-9. doi: 10.1073/pnas.78.4.2455.

An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.

Nucleic Acids Res. 1981 Apr 24;9(8):1777-88. doi: 10.1093/nar/9.8.1777.

Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.

Nature. 1983 Apr 14;302(5909):591-6. doi: 10.1038/302591a0.

gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man.

Nature. 1980 Feb 14;283(5748):637-42. doi: 10.1038/283637a0.

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Beta-thalassaemia: molecular pathogenesis and clinical variability.

作者信息

Kulozik A E

机构信息

Department of Paediatrics II, University of Ulm, Federal Republic of Germany.

出版信息

Eur J Pediatr. 1992 Feb;151(2):78-84. doi: 10.1007/BF01958947.

DOI:10.1007/BF01958947

PMID:1537367

Abstract

摘要

相似文献

Beta-thalassaemia: molecular pathogenesis and clinical variability.

Eur J Pediatr. 1992 Feb;151(2):78-84. doi: 10.1007/BF01958947.

Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia.

J Med Genet. 1988 May;25(5):307-10. doi: 10.1136/jmg.25.5.307.

Diagnosis and prevention of thalassemia.

Crit Rev Clin Lab Sci. 2013 Nov;50(6):125-41. doi: 10.3109/10408363.2013.847236.

The molecular genetics of thalassemia.

Adv Hum Genet. 1981;11:233-80. doi: 10.1007/978-1-4615-8303-5_4.

Gene defects in beta-thalassemia and their prenatal diagnosis.

Ann N Y Acad Sci. 1990;612:1-14. doi: 10.1111/j.1749-6632.1990.tb24285.x.

Model for antenatal diagnosis of beta-thalassaemia and other monogenic disorders by molecular analysis of linked DNA polymorphisms.

Nature. 1980 May 15;285(5761):144-7. doi: 10.1038/285144a0.

Haemoglobinopathies.

Prenat Diagn. 1996 Dec;16(13):1181-6. doi: 10.1002/(SICI)1097-0223(199612)16:13<1181::AID-PD93>3.0.CO;2-N.

The molecular basis for the clinical diversity of beta thalassaemia in Cypriots.

Lancet. 1983 Jun 4;1(8336):1235-7. doi: 10.1016/s0140-6736(83)92694-6.

The mutational basis of the thalassemia syndromes.

Prog Med Genet. 1977;2:165-204.

Haematological phenotypes in a family with triplicated alpha-globin gene, beta zero 39 and delta+27 thalassaemia mutations.

Clin Lab Haematol. 1992;14(4):289-92.

引用本文的文献

Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia.

Ann Hematol. 1993 Jan;66(1):51-4. doi: 10.1007/BF01737689.

本文引用的文献

Alpha-thalassemia in two Mediterranean populations.

Blood. 1982 Aug;60(2):509-12.

The triplicated alpha-gene locus and heterozygous beta thalassaemia: a case of thalassaemia intermedia.

Br J Haematol. 1983 Dec;55(4):709-10. doi: 10.1111/j.1365-2141.1983.tb02854.x.

Unexpected relationships between four large deletions in the human beta-globin gene cluster.

Cell. 1983 Dec;35(3 Pt 2):701-9. doi: 10.1016/0092-8674(83)90103-4.

Thalassaemia intermedia: a new molecular basis.

Br J Haematol. 1984 Feb;56(2):333-7. doi: 10.1111/j.1365-2141.1984.tb03960.x.

Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia.

Br J Haematol. 1983 Mar;53(3):411-6. doi: 10.1111/j.1365-2141.1983.tb02041.x.

The molecular basis for beta o thalassaemia intermedia in an Iranian individual.

Br J Haematol. 1982 Nov;52(3):511-6. doi: 10.1111/j.1365-2141.1982.tb03921.x.

Base substitution in an intervening sequence of a beta+-thalassemic human globin gene.

Proc Natl Acad Sci U S A. 1981 Apr;78(4):2455-9. doi: 10.1073/pnas.78.4.2455.

An intron nucleotide sequence variant in a cloned beta +-thalassaemia globin gene.

Nucleic Acids Res. 1981 Apr 24;9(8):1777-88. doi: 10.1093/nar/9.8.1777.

Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.

Nature. 1983 Apr 14;302(5909):591-6. doi: 10.1038/302591a0.

gamma-beta-Thalassaemia studies showing that deletion of the gamma- and delta-genes influences beta-globin gene expression in man.

Nature. 1980 Feb 14;283(5748):637-42. doi: 10.1038/283637a0.