Article
The Ile198Thr and Ala379Val variants of plasmatic PAF-acetylhydrolase impair catalytical activities and are associated with atopy and asthma.
American journal of human genetics - 1 May 2000
Kruse S, Mao X Q, Heinzmann A, Blattmann S, Roberts M H, Braun S, Gao P S, Forster J, Kuehr J, Hopkin J M, Shirakawa T, Deichmann K A
Abstract excerpt
The platelet-activating factor (PAF) represents a phospholipid with complex biological functions, including involvement in inflammatory processes. The degrading enzyme PAF acetylhydrolase (PAFAH) represents a candidate for asthma and other atopic diseases. Two loss-of-function mutations of PAFAH are associated with severe asthma in Japanese individuals. Our aim was to look for further PAFAH variants in white...
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