Literature DB >> 8054464

Determination of the allelic and haplotype frequencies of three polymorphisms in the promoter region of the human protein C gene.

C A Spek1, S R Poort, R M Bertina, P H Reitsma.   

Abstract

The frequencies of three polymorphisms in the promoter region of the human protein C gene (C/T at -1654, A/G at -1641 and A/T at -1476) have been determined. All three polymorphisms show allelic frequencies of about 0.60 and 0.40. The determination of the frequencies of the haplotypes of these polymorphisms showed that three of them (CGT, TAA and CAA) account for 88% of the observed haplotypes.

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Year:  1994        PMID: 8054464     DOI: 10.1097/00001721-199404000-00022

Source DB:  PubMed          Journal:  Blood Coagul Fibrinolysis        ISSN: 0957-5235            Impact factor:   1.276


  3 in total

1.  The SNPs (-1654C/T, -1641A/G and -1476A/T) of protein C promoter are associated with susceptibility to pulmonary thromboembolism in a Chinese population.

Authors:  Changtai Zhu; Ting Jiang; Yafang Miao; Sugang Gong; Kebin Cheng; Jian Guo; Xiaoyue Tan; Jun Yue; Jinming Liu
Journal:  J Thorac Dis       Date:  2014-07       Impact factor: 2.895

2.  Protein C promoter polymorphisms associate with sepsis in children with systemic meningococcemia.

Authors:  Alexander Binder; Georg Endler; Sandra Rieger; Gotho Geishofer; Bernhard Resch; Christine Mannhalter; Werner Zenz
Journal:  Hum Genet       Date:  2007-06-14       Impact factor: 4.132

3.  PROC Promoter Single Nucleotide Polymorphisms Associated With Low Protein C Activity But Not Increased Risk of Thromboembolism in Pediatric Population.

Authors:  Natsumon Udomkittivorakul; Werasak Sasanakul; Jakris Eu-Ahsunthornwattana; Ampaiwan Chuansumrit; Patcharee Komwilaisak; Duantida Songdej; Nongnuch Sirachainan
Journal:  Clin Appl Thromb Hemost       Date:  2020 Jan-Dec       Impact factor: 2.389

  3 in total

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