Literature DB >> 1551681

A novel missense mutation in the antithrombin III gene (Ser349----Pro) causing recurrent venous thrombosis.

C B Grundy1, S Holding, D S Millar, V V Kakkar, D N Cooper.   

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Year:  1992        PMID： 1551681     DOI： 10.1007/bf02265306

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


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  10 in total

1.  The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients with venous thrombosis.

Authors:  C L Gladson; I Scharrer; V Hach; K H Beck; J H Griffin
Journal:  Thromb Haemost       Date:  1988-02-25       Impact factor: 5.249

2.  Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site.

Authors:  S C Bock; J A Marrinan; E Radziejewska
Journal:  Biochemistry       Date:  1988-08-09       Impact factor: 3.162

Review 3.  Antithrombin III deficiency.

Authors:  C H Beresford
Journal:  Blood Rev       Date:  1988-12       Impact factor: 8.250

Review 4.  The molecular genetics of familial venous thrombosis.

Authors:  D N Cooper
Journal:  Blood Rev       Date:  1991-03       Impact factor: 8.250

5.  The use of an automated analyzer in the evaluation of antithrombin III and heparin.

Authors:  M F Scully
Journal:  Semin Thromb Hemost       Date:  1983-10       Impact factor: 4.180

6.  Familial antithrombin III deficiency: its natural history, genetics, diagnosis and treatment.

Authors:  T M Cosgriff; D T Bishop; E J Hershgold; M H Skolnick; B A Martin; B J Baty; K S Carlson
Journal:  Medicine (Baltimore)       Date:  1983-07       Impact factor: 1.889

7.  cDNA cloning and expression in Escherichia coli of a plasminogen activator inhibitor from human placenta.

Authors:  R D Ye; T C Wun; J E Sadler
Journal:  J Biol Chem       Date:  1987-03-15       Impact factor: 5.157

8.  Assignment of the human antithrombin III structural gene to chromosome 1q23-25.

Authors:  S C Bock; J F Harris; I Balazs; J M Trent
Journal:  Cytogenet Cell Genet       Date:  1985

9.  Recurrent deletion in the human antithrombin III gene.

Authors:  C B Grundy; F Thomas; D S Millar; M Krawczak; E Melissari; V Lindo; E Moffat; V V Kakkar; D N Cooper
Journal:  Blood       Date:  1991-08-15       Impact factor: 22.113

10.  Intron structure of the human antithrombin III gene differs from that of other members of the serine protease inhibitor superfamily.

Authors:  E V Prochownik; S C Bock; S H Orkin
Journal:  J Biol Chem       Date:  1985-08-15       Impact factor: 5.157
  10 in total

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