Literature DB >> 8446940

Protein C deficiency: a database of mutations. For the Protein C & S Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis.

P H Reitsma1, S R Poort, F Bernardi, S Gandrille, G L Long, N Sala, D N Cooper.   

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Year:  1993        PMID： 8446940

Source DB:  PubMed          Journal:  Thromb Haemost        ISSN： 0340-6245            Impact factor:   5.249


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  14 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.  A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis.

Authors:  D S Millar; C B Grundy; P Bignell; D C Mitchell; D Corden; P Woods; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132

3.  A novel missense mutation (Thr176-->Ile) at the putative hinge of the neo N-terminus of activated protein C.

Authors:  P J Hallam; A I Wacey; P M Mannucci; C Legnani; W Kühnau; M Krawczak; V V Kakkar; D N Cooper
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

Review 4.  Thrombophilia: how far should a clotter be investigated?

Authors:  I D Walker
Journal:  Postgrad Med J       Date:  1994-06       Impact factor: 2.401

5.  Models of the serine protease domain of the human antithrombotic plasma factor activated protein C and its zymogen.

Authors:  C L Fisher; J S Greengard; J H Griffin
Journal:  Protein Sci       Date:  1994-04       Impact factor: 6.725

6.  Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

Authors:  D Beltrán-Valero de Bernabé; F J Jimenez; R Aquaron; S Rodríguez de Córdoba
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

7.  On the role of phosphatidylethanolamine in the inhibition of activated protein C activity by antiphospholipid antibodies.

Authors:  M D Smirnov; D T Triplett; P C Comp; N L Esmon; C T Esmon
Journal:  J Clin Invest       Date:  1995-01       Impact factor: 14.808

8.  Protein C deficiency: summary of the 1995 database update.

Authors:  P H Reitsma
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

9.  Fulminant meningococcal septic shock in a boy with combined inherited properdin and protein C deficiency.

Authors:  C A Fijen; B H Derkx; E J Kuijper; M Mannens; S R Poort; M Peters; M R Daha; J Dankert
Journal:  Clin Exp Immunol       Date:  1995-11       Impact factor: 4.330

10.  Symptomatic hereditary type-II protein C deficiency caused by a missense mutation in exon IX of the protein C gene (Gly381 to Ser).

Authors:  E Wittmann; J Walter; I Pabinger-Fasching; H H Watzke
Journal:  Ann Hematol       Date:  1994-05       Impact factor: 3.673
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