Literature DB >> 1537367

Beta-thalassaemia: molecular pathogenesis and clinical variability.

A E Kulozik1.   

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Year:  1992        PMID： 1537367     DOI： 10.1007/bf01958947

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  56 in total

1.  Thalassemia intermedia: moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element.

Authors:  A E Kulozik; A Bellan-Koch; S Bail; E Kohne; E Kleihauer
Journal:  Blood       Date:  1991-05-01       Impact factor: 22.113

2.  Fine structure genetic analysis of a beta-globin promoter.

Authors:  R M Myers; K Tilly; T Maniatis
Journal:  Science       Date:  1986-05-02       Impact factor: 47.728

3.  Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA.

Authors:  S Amselem; V Nunes; M Vidaud; X Estivill; C Wong; L d'Auriol; D Vidaud; F Galibert; M Baiget; M Goossens
Journal:  Am J Hum Genet       Date:  1988-07       Impact factor: 11.025

4.  A unique thalassaemic syndrome: homozygous alpha-thalassaemia + homozygous beta-thalassaemia.

Authors:  D Loukopoulos; A Loutradi; P Fessas
Journal:  Br J Haematol       Date:  1978-07       Impact factor: 6.998

5.  Interaction of alpha and beta thalassaemia genes in two Sardinian families.

Authors:  M Furbetta; R Galanello; A Ximenes; A Angius; M A Melis; P Serra; A Cao
Journal:  Br J Haematol       Date:  1979-02       Impact factor: 6.998

6.  Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major.

Authors:  K G Yang; F Kutlar; E George; J B Wilson; A Kutlar; T A Stoming; J M Gonzalez-Redondo; T H Huisman
Journal:  Br J Haematol       Date:  1989-05       Impact factor: 6.998

7.  Beta thalassaemia mutations in Turkish Cypriots.

Authors:  A Sozuoz; A Berkalp; A Figus; A Loi; M Pirastu; A Cao
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

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

Authors:  L H Van der Ploeg; A Konings; M Oort; D Roos; L Bernini; R A Flavell
Journal:  Nature       Date:  1980-02-14       Impact factor: 49.962

9.  Position-independent, high-level expression of the human beta-globin gene in transgenic mice.

Authors:  F Grosveld; G B van Assendelft; D R Greaves; G Kollias
Journal:  Cell       Date:  1987-12-24       Impact factor: 41.582

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

Authors:  R A Spritz; P Jagadeeswaran; P V Choudary; P A Biro; J T Elder; J K deRiel; J L Manley; M L Gefter; B G Forget; S M Weissman
Journal:  Proc Natl Acad Sci U S A       Date:  1981-04       Impact factor: 11.205
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  1 in total

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

Authors:  A E Kulozik; E Kohne; E Kleihauer
Journal:  Ann Hematol       Date:  1993-01       Impact factor: 3.673
  1 in total

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