Literature DB >> 2921044

A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene.

C Aulehla-Scholz1, R Spiegelberg, J Horst.   

Abstract

Larger deletions are a rare cause of beta-thalassemia. We report a further instance of a deletion comprising about 300 bp in a female heterozygote. Exon 1, part of IVS-1 and the 5' beta-globin gene promotor region are lost.

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Year:  1989        PMID： 2921044     DOI： 10.1007/BF00279010

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  13 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  Partial deletion of the 5' beta-globin gene region causes beta zero-thalassemia in members of an American black family.

Authors:  B J Padanilam; A E Felice; T H Huisman
Journal:  Blood       Date:  1984-10       Impact factor: 22.113

3.  Direct identification of sickle cell anemia by blot hybridization.

Authors:  R F Geever; L B Wilson; F S Nallaseth; P F Milner; M Bittner; J T Wilson
Journal:  Proc Natl Acad Sci U S A       Date:  1981-08       Impact factor: 11.205

4.  Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene.

Authors:  S H Orkin; R Kolodner; A Michelson; R Husson
Journal:  Proc Natl Acad Sci U S A       Date:  1980-06       Impact factor: 11.205

5.  Population and genetic studies suggest a single origin for the Indian deletion beta thalassaemia.

Authors:  S L Thein; J M Old; J S Wainscoat; M Petrou; B Modell; D J Weatherall
Journal:  Br J Haematol       Date:  1984-06       Impact factor: 6.998

6.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

7.  Dutch beta 0-thalassaemia: a 10 kilobase DNA deletion associated with significant gamma-chain production.

Authors:  J G Gilman; T H Huisman; J Abels
Journal:  Br J Haematol       Date:  1984-02       Impact factor: 6.998

8.  Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans.

Authors:  H H Kazazian; S H Orkin; A F Markham; C R Chapman; H Youssoufian; P G Waber
Journal:  Nature       Date:  1984 Jul 12-18       Impact factor: 49.962

9.  Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA.

Authors:  M Pirastu; Y W Kan; A Cao; B J Conner; R L Teplitz; R B Wallace
Journal:  N Engl J Med       Date:  1983-08-04       Impact factor: 91.245

10.  Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene.

Authors:  R A Spritz; S H Orkin
Journal:  Nucleic Acids Res       Date:  1982-12-20       Impact factor: 16.971
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  1 in total

1.  The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran.

Authors:  Mohammad Hamid; Ladan Dawoody Nejad; Gholamreza Shariati; Hamid Galehdari; Alihossein Saberi; Marziye Mohammadi-Anaei
Journal:  Iran Biomed J       Date:  2016-03-08
  1 in total

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