Condition: Platelet-Activating Factor Acetylhydrolase Deficiency


rs201256712 in PLA2G7 gene and Platelet-Activating Factor Acetylhydrolase Deficiency PMID 9412624 1997 A mutation in plasma platelet-activating factor acetylhydrolase (Val279-->Phe) is a genetic risk factor for stroke.

PMID 8675689 1996 Platelet-activating factor acetylhydrolase deficiency. A missense mutation near the active site of an anti-inflammatory phospholipase.

PMID 9759612 1998 A mutation in plasma platelet-activating factor acetylhydrolase (Val279Phe) is a genetic risk factor for cerebral hemorrhage but not for hypertension.

PMID 9245731 1997 Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation.

PMID 9472966 1998 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.