Literature DB >> 1348051

PCR assay for a polymorphic DdeI site in the promoter region of the human cystatin C gene.

M Balbín1, M Abrahamson.   

Abstract

A new DNA variant in the promoter region of the human cystatin C gene has been detected by direct sequencing. The base substitution generates a new DdeI restriction site, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population.

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Year:  1992        PMID： 1348051     DOI： 10.1007/bf02265308

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


  3 in total

1.  SstII polymorphic sites in the promoter region of the human cystatin C gene.

Authors:  M Balbín; M Abrahamson
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

2.  Structure and expression of the human cystatin C gene.

Authors:  M Abrahamson; I Olafsson; A Palsdottir; M Ulvsbäck; A Lundwall; O Jensson; A Grubb
Journal:  Biochem J       Date:  1990-06-01       Impact factor: 3.857

3.  The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20.

Authors:  M Abrahamson; M Q Islam; J Szpirer; C Szpirer; G Levan
Journal:  Hum Genet       Date:  1989-06       Impact factor: 4.132
  3 in total
  3 in total

1.  A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level.

Authors:  M Balbín; J P Freije; M Abrahamson; G Velasco; A Grubb; C López-Otín
Journal:  Hum Genet       Date:  1993-02       Impact factor: 4.132

2.  An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism.

Authors:  M Balbín; A Grubb; M Abrahamson
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

Review 3.  Cystatin C is a disease-associated protein subject to multiple regulation.

Authors:  Yuekang Xu; Ying Ding; Xinchen Li; Xiaobing Wu
Journal:  Immunol Cell Biol       Date:  2015-02-03       Impact factor: 5.126
  3 in total

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