Literature DB >> 7635483

A novel polymorphism (6376 G/T) in intron 7 of the human protein C gene.

J M Soria1, M Morell, X Estivill, N Sala.   

Abstract

A novel polymorphism (6376 G/T) in intron 7 (17) of the human PROC gene has been identified by direct DNA sequencing. Restriction analysis with the use of mutagenic primers indicate that the allele frequencies are 0.17 (allele T) and 0.83 (allele G), with a calculated heterozygosity of 28%.

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Year:  1995        PMID： 7635483     DOI： 10.1007/bf00207392

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


  6 in total

1.  Evolution and organization of the human protein C gene.

Authors:  J Plutzky; J A Hoskins; G L Long; G R Crabtree
Journal:  Proc Natl Acad Sci U S A       Date:  1986-02       Impact factor: 11.205

2.  Sublocalization of the human protein C gene on chromosome 2q13-q14.

Authors:  P Patracchini; V Aiello; P Palazzi; E Calzolari; F Bernardi
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

Review 3.  Molecular events that control the protein C anticoagulant pathway.

Authors:  C T Esmon
Journal:  Thromb Haemost       Date:  1993-07-01       Impact factor: 5.249

4.  Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect.

Authors:  C F Allaart; S R Poort; F R Rosendaal; P H Reitsma; R M Bertina; E Briët
Journal:  Lancet       Date:  1993-01-16       Impact factor: 79.321

5.  Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene.

Authors:  J M Soria; D Brito; J Barceló; J Fontcuberta; L Botero; J Maldonado; X Estivill; N Sala
Journal:  Thromb Haemost       Date:  1994-07       Impact factor: 5.249

6.  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
  6 in total

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