Literature DB >> 2602169

Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis.

C Grundy1, A Chitolie, S Talbot, D Bevan, V Kakkar, D N Cooper.   

Abstract

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Year:  1989        PMID： 2602169      PMCID： PMC335338          DOI： 10.1093/nar/17.24.10513

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


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  4 in total

1.  The CpG dinucleotide and human genetic disease.

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

2.  A thrombotic state due to an abnormal protein C.

Authors:  M Matsuda; T Sugo; Y Sakata; H Murayama; J Mimuro; S Tanabe; S Yoshitake
Journal:  N Engl J Med       Date:  1988-11-10       Impact factor: 91.245

3.  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

4.  Molecular pathology of haemophilia B.

Authors:  P M Green; D R Bentley; R S Mibashan; I M Nilsson; F Giannelli
Journal:  EMBO J       Date:  1989-04       Impact factor: 11.598
  4 in total
  3 in total

1.  A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

Authors:  Marie Wattenhofer; Nilüfer Sahin-Calapoglu; Ditte Andreasen; Ersan Kalay; Refik Caylan; Bastien Braillard; Nicole Fowler-Jaeger; Alexandre Reymond; Bernard C Rossier; Ahmet Karaguzel; Stylianos E Antonarakis
Journal:  Hum Genet       Date:  2005-07-14       Impact factor: 4.132

2.  Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and cellular basis for hereditary protein C deficiency.

Authors:  K Yamamoto; M Tanimoto; N Emi; T Matsushita; J Takamatsu; H Saito
Journal:  J Clin Invest       Date:  1992-12       Impact factor: 14.808

3.  Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population.

Authors:  Hee-Jin Kim; Ja-Young Seo; Ki-O Lee; Sung-Hwan Bang; Seung-Tae Lee; Chang-Seok Ki; Jong-Won Kim; Chul Won Jung; Duk-Kyung Kim; Sun-Hee Kim
Journal:  Haematologica       Date:  2013-10-25       Impact factor: 9.941
  3 in total

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