Article ID Journal Published Year Pages File Type
10833467 Molecular Genetics and Metabolism 2012 5 Pages PDF
Abstract
► p.Pro70Leu, p.Ser195Leu, p.Ile441Thr, and p.Thr488Ala of FMO3 were identified. ► Recombinantly expressed FMO3 variants showed abnormal trimethylamine N-oxygenation. ► These missense but rare FMO3 mutations could be causative of trimethylaminuria.
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