Literature DB >> 846566

Direct demonstration of beta-globin mRNA in homozygous Ferrara betaO-thalassaemia patients.

S Ottolenghi, P Comi, B Giglioni, R Williamson, G Vullo, F Conconi.   

Abstract

In cases of betaO-thalassaemia from Ferrara, Italy, the beta-globin gene in transcribed into mRNA but no protein is synthesised. For these cases there is no hybridisation data suggesting a globin gene structural mutation. This again demonstrates the diverse molecular events which may cause this prevalent hereditary disease.

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Year:  1977        PMID： 846566     DOI： 10.1038/266231a0

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


  7 in total

1.  beta (+)-Thalassaemia in the Po river delta region (northern Italy): genotype and beta globin synthesis.

Authors:  L Del Senno; M Pirastu; R Barbieri; F Bernardi; D Buzzoni; G Marchetti; C Perrotta; C Vullo; Y W Kan; F Conconi
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

2.  Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore.

Authors:  F Ramirez; J G Mears; U Nudel; A Bank; L Luzzatto; G DiPrisco; R D'Avino; G Pepe; L Camardella; R Gambino; R Cimino; N Quattrin
Journal:  J Clin Invest       Date:  1979-04       Impact factor: 14.808

Review 3.  The thalassemias: molecular mechanisms of human genetic disease.

Authors:  R A Spritz; B G Forget
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

Review 4.  The molecular basis of disorders of human hemoglobin synthesis.

Authors:  F Ramirez; J G Mears; A Bank
Journal:  Mol Cell Biochem       Date:  1980-08-16       Impact factor: 3.396

5.  beta 0 thalassemia, a nonsense mutation in man.

Authors:  J C Chang; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1979-06       Impact factor: 11.205

6.  A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.

Authors:  M Baird; C Driscoll; H Schreiner; G V Sciarratta; G Sansone; G Niazi; F Ramirez; A Bank
Journal:  Proc Natl Acad Sci U S A       Date:  1981-07       Impact factor: 11.205

7.  Relative stability of alpha- and beta-globin messenger RNAs in homozygous beta+ thalassemia.

Authors:  A W Nienhuis; P Turner; E J Benz
Journal:  Proc Natl Acad Sci U S A       Date:  1977-09       Impact factor: 11.205
  7 in total

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