Literature DB >> 2790219

Direct mutation analysis of beta-thalassemia genes in families of various ethnic origins residing in Germany.

J Schnee1, A Eigel, J Horst.   

Abstract

DNA from Mediterranean and Asian beta-thalassemia patients, now residing in Germany, has been characterized by oligonucleotide hybridization and direct restriction analysis. Using five oligonucleotide pairs complementary to the most frequent beta-thalassemia mutations, and three different restriction enzymes, we were able to detect 33 of 36 mutations directly.

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Year:  1989        PMID： 2790219     DOI： 10.1007/bf00320854

Source DB:  PubMed          Journal:  Blut        ISSN： 0006-5242


  15 in total

Review 1.  Molecular basis and prenatal diagnosis of beta-thalassemia.

Authors:  H H Kazazian; C D Boehm
Journal:  Blood       Date:  1988-10       Impact factor: 22.113

2.  Mild and severe beta-thalassemia among homozygotes from Turkey: identification of the types by hybridization of amplified DNA with synthetic probes.

Authors:  J C Diaz-Chico; K G Yang; T A Stoming; D G Efremov; A Kutlar; F Kutlar; M Aksoy; C Altay; A Gurgey; Y Kilinc
Journal:  Blood       Date:  1988-01       Impact factor: 22.113

3.  Beta thalassaemia mutations in the Turkish population.

Authors:  N Akar; A O Cavdar; E Dessi; A Loi; M Pirastu; A Cao
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318

4.  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

5.  Prenatal diagnosis of beta-thalassaemia with the synthetic-oligomer technique.

Authors:  C Rosatelli; A M Falchi; T Tuveri; M T Scalas; A Di Tucci; G Monni; A Cao
Journal:  Lancet       Date:  1985-02-02       Impact factor: 79.321

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

Authors:  S H Orkin; H H Kazazian; S E Antonarakis; S C Goff; C D Boehm; J P Sexton; P G Waber; P J Giardina
Journal:  Nature       Date:  1982-04-15       Impact factor: 49.962

7.  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

8.  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

9.  beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

Authors:  T C Cheng; S H Orkin; S E Antonarakis; M J Potter; J P Sexton; A F Markham; P J Giardina; A Li; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

10.  Molecular characterization of seven beta-thalassemia mutations in Asian Indians.

Authors:  H H Kazazian; S H Orkin; S E Antonarakis; J P Sexton; C D Boehm; S C Goff; P G Waber
Journal:  EMBO J       Date:  1984-03       Impact factor: 11.598
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