| http://purl.uniprot.org/citations/9536088 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9536088 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9536088 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Citation |
| http://purl.uniprot.org/citations/9536088 | http://www.w3.org/2000/01/rdf-schema#comment | "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 probands have been identified which share a particular polymorphic haplotype. Nonsense and missense mutations are associated with a severe phenotype and are also implicated in impaired metabolism of other nitrogen- and sulfur-containing substrates including biogenic amines, both clinically and when mutated proteins expressed from cDNA are studied in vitro . These findings illustrate the critical role played by human FMO3 in the metabolism of xenobiotic substrates and endogenous amines."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/7.5.839"xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/7.5.839"xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Lin J."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Lin J."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Treacy E.P."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Treacy E.P."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Knight M."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Knight M."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Cashman J.R."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Cashman J.R."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Forrest S.M."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Forrest S.M."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Danks D.M."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Danks D.M."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Akerman B.R."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Akerman B.R."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Bibeau C."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Bibeau C."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Bruce A.G."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Bruce A.G."xsd:string |
| http://purl.uniprot.org/citations/9536088 | http://purl.uniprot.org/core/author | "Chow L.M.L."xsd:string |