Literature DB >> 3960724

Antithrombin III tours gene: identification of a point mutation leading to an arginine----cysteine replacement in a silent deficiency.

N Duchange, J F Chassé, G N Cohen, M M Zakin.   

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Year:  1986        PMID： 3960724      PMCID： PMC339667          DOI： 10.1093/nar/14.5.2408

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  5 in total

1.  An abnormal plasma antithrombin with no apparent affinity for heparin.

Authors:  J F Chasse; F Esnard; J D Guitton; H Mouray; F Perigois; G Fauconneau; F Gauthier
Journal:  Thromb Res       Date:  1984-05-15       Impact factor: 3.944

2.  Antithrombin III Toyama: a hereditary abnormal antithrombin III of a patient with recurrent thrombophlebitis.

Authors:  N Sakuragawa; K Takahashi; S Kondo; T Koide
Journal:  Thromb Res       Date:  1983-07-15       Impact factor: 3.944

3.  Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability.

Authors:  T Koide; S Odani; K Takahashi; T Ono; N Sakuragawa
Journal:  Proc Natl Acad Sci U S A       Date:  1984-01       Impact factor: 11.205

4.  Modified oligonucleotides as alternatives to the synthesis of mixed probes for the screening of cDNA libraries.

Authors:  T Huynh-Dinh; N Duchange; M M Zakin; A Lemarchand; J Igolen
Journal:  Proc Natl Acad Sci U S A       Date:  1985-11       Impact factor: 11.205

5.  Isolation of a cDNA clone for human antithrombin III.

Authors:  E V Prochownik; A F Markham; S H Orkin
Journal:  J Biol Chem       Date:  1983-07-10       Impact factor: 5.157
  5 in total
  7 in total

1.  Pleiotropic effects of antithrombin strand 1C substitution mutations.

Authors:  D A Lane; R J Olds; J Conard; M Boisclair; S C Bock; M Hultin; U Abildgaard; H Ireland; E Thompson; G Sas
Journal:  J Clin Invest       Date:  1992-12       Impact factor: 14.808

2.  The CpG dinucleotide and human genetic disease.

Authors:  D N Cooper; H Youssoufian
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

3.  Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

Authors:  H S Bernstein; D F Bishop; K H Astrin; R Kornreich; C M Eng; H Sakuraba; R J Desnick
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

Review 4.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

5.  Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

Authors:  H Youssoufian; S E Antonarakis; W Bell; A M Griffin; H H Kazazian
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

6.  Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

Authors:  A Hata; C Setoyama; K Shimada; E Takeda; Y Kuroda; I Akaboshi; I Matsuda
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025

7.  Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.

Authors:  C Dacou-Voutetakis; D M Feltquate; M Drakopoulou; I A Kourides; N C Dracopoli
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025
  7 in total

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