Article
Two novel mutations of the FMO3 gene in a proband with trimethylaminuria.
Human mutation - 1 Jan 1999
Akerman B R, Forrest S, Chow L, Youil R, Knight M, Treacy E P
Abstract excerpt
The mammalian flavin-containing monooxygenases catalyze the NADPH-dependent N-oxygenation of nucleophilic nitrogen-, sulfur-, and phosphorus-containing chemicals, drugs, and xenobiotics, including trimethylamine. The FMO3 gene encodes the dominant catalytically active isoform present in human liver. We have identified two missense mutations in the coding region of the gene in a proband with trimethylaminuria...
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