Literature DB >> 6280057

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

S H Orkin, H H Kazazian, S E Antonarakis, S C Goff, C D Boehm, J P Sexton, P G Waber, P J Giardina.   

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Year:  1982        PMID： 6280057     DOI： 10.1038/296627a0

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  249 in total

1.  FKLF, a novel Krüppel-like factor that activates human embryonic and fetal beta-like globin genes.

Authors:  H Asano; X S Li; G Stamatoyannopoulos
Journal:  Mol Cell Biol       Date:  1999-05       Impact factor: 4.272

2.  A novel sickle cell mutation of yet another origin in Africa: the Cameroon type.

Authors:  C Lapouméroulie; O Dunda; R Ducrocq; G Trabuchet; M Mony-Lobé; J M Bodo; P Carnevale; D Labie; J Elion; R Krishnamoorthy
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

3.  Rapid detection of the highly polymorphic beta globin framework by denaturing gradient gel electrophoresis.

Authors:  M Losekoot; H van Heeren; J J Schipper; P C Giordano; L F Bernini; R Fodde
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

4.  Beta-thalassemia major resulting from a compound heterozygosity for the beta-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene.

Authors:  Y Chifu; H Nakashima; H Hara; E Yokota; T Imamura
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

5.  Origin heterogeneity of Hb Lepore-Boston gene in Italy.

Authors:  G Fioretti; M De Angioletti; F Masciangelo; G Lacerra; A Scarallo; C de Bonis; L Pagano; E Guarino; L De Rosa; F Salvati
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

6.  Analysis of beta-globin gene haplotypes in Asian Indians: origin and spread of beta-thalassaemia on the Indian subcontinent.

Authors:  N Y Varawalla; A C Fitches; J M Old
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

7.  Rapid molecular characterization of mutations leading to unstable hemoglobin beta-chain variants.

Authors:  E Girodon; N Ghanem; M Vidaud; J Riou; J Martin; F Galactéros; M Goossens
Journal:  Ann Hematol       Date:  1992-10       Impact factor: 3.673

8.  Donor splice site mutation in the apolipoprotein (Apo) C-II gene (Apo C-IIHamburg) of a patient with Apo C-II deficiency.

Authors:  S S Fojo; U Beisiegel; U Beil; K Higuchi; M Bojanovski; R E Gregg; H Greten; H B Brewer
Journal:  J Clin Invest       Date:  1988-11       Impact factor: 14.808

9.  Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron.

Authors:  A Eigel; J Schnee; R Oehme; J Horst
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

10.  A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the Krüppel family of nuclear proteins.

Authors:  I J Miller; J J Bieker
Journal:  Mol Cell Biol       Date:  1993-05       Impact factor: 4.272
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