Literature DB >> 1348046

Protein C deficiency and thromboembolism: recurrent mutation at Arg 306 in the protein C gene.

C B Grundy1, S Schulman, M Krawczak, J Kobosko, V V Kakkar, D N Cooper.   

Abstract

A CGA----TGA transition in the protein C gene, resulting in an Arg306----Term substitution, was detected in a Swedish kindred with thrombotic disease whose members exhibit plasma protein C activity/antigen levels consistent with type I protein C deficiency. Although an identical lesion has been reported previously in several Dutch families, RFLP typing indicated that the Dutch and Swedish mutations were unlikely to be identical by descent and probably arose by recurrent mutation.

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Year:  1992        PMID： 1348046     DOI： 10.1007/bf00219350

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


  10 in total

1.  Molecular genetic analysis of a novel form of haemophilia A characterized by the variable expression of factor VIII.

Authors:  K Wieland; L P Berg; V V Kakkar; D N Cooper; U Martinowitz
Journal:  Thromb Res       Date:  1990-09-01       Impact factor: 3.944

2.  Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.

Authors:  J Reiss; D N Cooper; J Bal; R Slomski; G R Cutting; M Krawczak
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

Review 3.  The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.

Authors:  D N Cooper; M Krawczak
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

4.  MspI RFLP in intron 8 of the human protein C gene.

Authors:  E Koenhen; R M Bertina; P H Reitsma
Journal:  Nucleic Acids Res       Date:  1989-10-25       Impact factor: 16.971

5.  Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies.

Authors:  C B Laurell
Journal:  Anal Biochem       Date:  1966-04       Impact factor: 3.365

6.  Application of two neutral MspI DNA polymorphisms in the analysis of hereditary protein C deficiency.

Authors:  P H Reitsma; W te Lintel Hekkert; E Koenhen; P A van der Velden; C F Allaart; P P Deutz-Terlouw; S R Poort; R M Bertina
Journal:  Thromb Haemost       Date:  1990-10-22       Impact factor: 5.249

7.  Absence of thrombosis in subjects with heterozygous protein C deficiency.

Authors:  J Miletich; L Sherman; G Broze
Journal:  N Engl J Med       Date:  1987-10-15       Impact factor: 91.245

8.  The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

Authors:  P H Reitsma; S R Poort; C F Allaart; E Briët; R M Bertina
Journal:  Blood       Date:  1991-08-15       Impact factor: 22.113

9.  The nucleotide sequence of the gene for human protein C.

Authors:  D C Foster; S Yoshitake; E W Davie
Journal:  Proc Natl Acad Sci U S A       Date:  1985-07       Impact factor: 11.205

10.  Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

Authors:  G Romeo; H J Hassan; S Staempfli; L Roncuzzi; L Cianetti; A Leonardi; V Vicente; P M Mannucci; R Bertina; C Peschle
Journal:  Proc Natl Acad Sci U S A       Date:  1987-05       Impact factor: 11.205
  10 in total
  3 in total

1.  The mutational demography of protein C deficiency.

Authors:  M Krawczak; P H Reitsma; D N Cooper
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

2.  Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Authors:  G A Bellus; T W Hefferon; R I Ortiz de Luna; J T Hecht; W A Horton; M Machado; I Kaitila; I McIntosh; C A Francomano
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

3.  Burden of rare exome sequence variants in PROC gene is associated with venous thromboembolism: a population-based study.

Authors:  Weihong Tang; Mary Rachel Stimson; Saonli Basu; Susan R Heckbert; Mary Cushman; James S Pankow; Aaron R Folsom; Nathan Pankratz
Journal:  J Thromb Haemost       Date:  2019-12-06       Impact factor: 5.824
  3 in total

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