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platelet-activating factor acetylhydrolase deficiency (PLA2G7 deficiency)
Epidemiology:
- a trait which is present in 27% of Japanese
Genetics:
- associated with defects in PLA2G7
Clinical manifestations:
- could have a significant physiologic effect in the presence of inflammatory responses
General
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM 601690
MORBIDMAP 601690
References
OMIM :accession 601690