Article
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication.
Human molecular genetics - 1 May 1998
Treacy E P, Akerman B R, Chow L M, Youil R, Bibeau C, Lin J, Bruce A G, Knight M, Danks D M, Cashman J R, Forrest S M
Abstract excerpt
Individuals with the recessive condition trimethylaminuria exhibit variation in metabolic detoxication of xenobiotics by hepatic flavin-containing monooxygenases. We show here that mutations in the human flavin-containing monooxygenase isoform 3 gene ( FMO3 ) impair N -oxygenation of xenobiotics and are responsible for the trimethylaminuria phenotype. Three disease-causing mutations in nine Australian-born...
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