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

doi:10.3390/ph2030094

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Pharmaceuticals 2009, 2(3), 94-117; doi:10.3390/ph2030094

Review

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

Diana M. Stafforini

Huntsman Cancer Institute and Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112, USA

Received: 27 October 2009; in revised form: 10 November 2009 / Accepted: 19 November 2009 / Published: 20 November 2009

(This article belongs to the Special Issue Biomarkers)

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Abstract: 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.

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

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MDPI and ACS Style

Stafforini, D.M. Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene. Pharmaceuticals 2009, 2, 94-117.

AMA Style

Stafforini D.M. Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene. Pharmaceuticals. 2009; 2(3):94-117.

Chicago/Turabian Style

Stafforini, Diana M. 2009. "Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene." Pharmaceuticals 2, no. 3: 94-117.

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