| pubmed-article:9536088 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9536088 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:9536088 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:9536088 | lifeskim:mentions | umls-concept:C0342739 | lld:lifeskim |
| pubmed-article:9536088 | lifeskim:mentions | umls-concept:C1457869 | lld:lifeskim |
| pubmed-article:9536088 | lifeskim:mentions | umls-concept:C1414645 | lld:lifeskim |
| pubmed-article:9536088 | lifeskim:mentions | umls-concept:C0598281 | lld:lifeskim |
| pubmed-article:9536088 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:9536088 | lifeskim:mentions | umls-concept:C0058253 | lld:lifeskim |
| pubmed-article:9536088 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:9536088 | pubmed:dateCreated | 1998-8-26 | lld:pubmed |
| pubmed-article:9536088 | pubmed:abstractText | 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. | lld:pubmed |
| pubmed-article:9536088 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9536088 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9536088 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9536088 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:9536088 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9536088 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9536088 | pubmed:month | May | lld:pubmed |
| pubmed-article:9536088 | pubmed:issn | 0964-6906 | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:LisMM | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:KnightMM | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:DanksD MDM | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:BruceA GAG | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:ForrestS MSM | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:AkermanB RBR | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:CashmanJ RJR | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:ChouL SLS | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:TreacyE PEP | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:BibeauCC | lld:pubmed |
| pubmed-article:9536088 | pubmed:author | pubmed-author:YouilRR | lld:pubmed |
| pubmed-article:9536088 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9536088 | pubmed:volume | 7 | lld:pubmed |
| pubmed-article:9536088 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9536088 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9536088 | pubmed:pagination | 839-45 | lld:pubmed |
| pubmed-article:9536088 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:9536088 | pubmed:meshHeading | pubmed-meshheading:9536088-... | lld:pubmed |
| pubmed-article:9536088 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9536088 | pubmed:articleTitle | Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. | lld:pubmed |
| pubmed-article:9536088 | pubmed:affiliation | McGill University, Montreal Children's Hospital Research Institute, Montreal, Quebec H3H 1P3, Canada. mcet@musica.mcgill.ca | lld:pubmed |
| pubmed-article:9536088 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9536088 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:9536088 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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