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Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene

Author(s): Diana M. Stafforini

Journal: Pharmaceuticals
ISSN 1424-8247

Volume: 2;
Issue: 3;
Start page: 94;
Date: 2009;
Original page

Keywords: PAF acetylhydrolase | PLA2G7 | single nucleotide polymorphism | mutation | vascular disease

In the past several years a number of alterations in the PAFAH/PLA2G7/LpPLA2 gene have been described. These include inactivating mutations, polymorphisms in the coding region, and other genetic changes located in promoter and intronic regions of the gene. The consequences associated with these genetic variations have been evaluated from different perspectives, including in vitro biochemical and molecular studies and clinical analyses in human subjects. This review highlights the current state of the field and suggests new approaches that can be used to evaluate functional consequences associated with mutations and polymorphisms in the PAF-AH gene.
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