Literature DB >> 1729892

A novel -32 (C-A) mutant identified in amplified genomic DNA of a Chinese beta-thalassemic patient.

L I Lin, K S Lin, K H Lin, T Y Cheng.   

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Year:  1992        PMID: 1729892      PMCID: PMC1682536     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  9 in total

1.  The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation.

Authors:  L I Lin; K S Lin; K H Lin; H C Chang
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

Review 2.  The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.

Authors:  H H Kazazian
Journal:  Semin Hematol       Date:  1990-07       Impact factor: 3.851

3.  The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation.

Authors:  S Huang; C Wong; S E Antonarakis; T Ro-lien; W H Lo; H H Kazazian
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

4.  Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit beta-globin gene in mouse 3T6 cells.

Authors:  P Dierks; A van Ooyen; M D Cochran; C Dobkin; J Reiser; C Weissmann
Journal:  Cell       Date:  1983-03       Impact factor: 41.582

5.  beta-Thalassemia in a Kurdish Jew. Single base changes in the T-A-T-A box.

Authors:  M Poncz; M Ballantine; D Solowiejczyk; I Barak; E Schwartz; S Surrey
Journal:  J Biol Chem       Date:  1982-06-10       Impact factor: 5.157

6.  A novel mutation in the TATA box in a Japanese patient with beta +-thalassemia.

Authors:  Y Takihara; T Nakamura; H Yamada; Y Takagi; Y Fukumaki
Journal:  Blood       Date:  1986-02       Impact factor: 22.113

7.  beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

Authors:  S E Antonarakis; S H Irkin; T C Cheng; A F Scott; J P Sexton; S P Trusko; S Charache; H H Kazazian
Journal:  Proc Natl Acad Sci U S A       Date:  1984-02       Impact factor: 11.205

8.  ATA box transcription mutation in beta-thalassemia.

Authors:  S H Orkin; J P Sexton; T C Cheng; S C Goff; P J Giardina; J I Lee; H H Kazazian
Journal:  Nucleic Acids Res       Date:  1983-07-25       Impact factor: 16.971

9.  Beta-thalassemia due to a T----A mutation within the ATA box.

Authors:  Y J Fei; T A Stoming; G D Efremov; D G Efremov; R Battacharia; J M Gonzalez-Redondo; C Altay; A Gurgey; T H Huisman
Journal:  Biochem Biophys Res Commun       Date:  1988-06-16       Impact factor: 3.575

  9 in total
  1 in total

1.  Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for beta-thalassemia mutations.

Authors:  Hsin-Kai Liao; Yi-Ning Su; Hung-Yi Kao; Chia-Cheng Hung; Hsueh-Ting Wang; Yu-Ju Chen
Journal:  J Hum Genet       Date:  2005-03-11       Impact factor: 3.172

  1 in total

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