Identification of the G994--> T missense in exon 9 of the plasma platelet-activating factor acetylhydrolase gene as an independent risk factor for coronary artery disease in Japanese men.

Abstract excerpt

Platelet-activating factor (PAF) acetylhydrolase may play important roles in the pathophysiology of thrombosis and atherosclerosis related to its catalytic action in the degradation of PAF and oxidized phospholipids. A missense mutation (G--> T transversion at nucleotide 994) in the plasma PAF acetylhydrolase gene results in a Val--> Phe substitution at amino acid 279 of the mature protein and a consequent loss...

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