Literature DB >> 1969846

A common Chinese beta-thalassemia mutation found in a Japanese family.

Y Naritomi1, H Nakashima, M Kagimoto, Y Naito, E Yokota, T Imamura.   

Abstract

We have identified the substitution of a thymine for a cytosine at nucleotide position 654 in the second intron of the beta-globin gene that causes beta-thalassemia in a Japanese family. This mutation was reported to occur rather frequently in patients of Chinese origin, but has rarely been found in other ethnic groups.

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Year:  1990        PMID： 1969846     DOI： 10.1007/bf00195825

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


  14 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.  Thalassemia intermedia in a Japanese family.

Authors:  J Sasaki; T Imamura; H Hirata; I Sumida; Y Niho
Journal:  Nihon Ketsueki Gakkai Zasshi       Date:  1977-08

3.  DNA polymorphism patterns in the beta-globin gene cluster in the Japanese population.

Authors:  K Shimizu
Journal:  Hemoglobin       Date:  1987       Impact factor: 0.849

4.  Packaging recombinant DNA molecules into bacteriophage particles in vitro.

Authors:  B Hohn; K Murray
Journal:  Proc Natl Acad Sci U S A       Date:  1977-08       Impact factor: 11.205

5.  Screening lambdagt recombinant clones by hybridization to single plaques in situ.

Authors:  W D Benton; R W Davis
Journal:  Science       Date:  1977-04-08       Impact factor: 47.728

6.  Evolutionary rate at the molecular level.

Authors:  M Kimura
Journal:  Nature       Date:  1968-02-17       Impact factor: 49.962

7.  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

8.  Thalassemia in Japan.

Authors:  T Imamura; E Yokota; Y Naito; M Kagimoto; Y Naritomi; T Kawaguchi; J Sugihara; Y Ohta
Journal:  Nihon Ketsueki Gakkai Zasshi       Date:  1985-12

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.  DNA sequencing with chain-terminating inhibitors.

Authors:  F Sanger; S Nicklen; A R Coulson
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205
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  1 in total

1.  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
  1 in total

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