Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833467 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
⺠p.Pro70Leu, p.Ser195Leu, p.Ile441Thr, and p.Thr488Ala of FMO3 were identified. ⺠Recombinantly expressed FMO3 variants showed abnormal trimethylamine N-oxygenation. ⺠These missense but rare FMO3 mutations could be causative of trimethylaminuria.
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Authors
Makiko Shimizu, Yuko Kobayashi, Shoko Hayashi, Yuka Aoki, Hiroshi Yamazaki,