Mutations of the flavin-containing monooxygenase gene ( FMO3) cause trimethylaminuria, a defect in detoxication.

Autor: Treacy, E. P., Akerman, B. R., Chow, L. M. L., Youil, R., Bibeau, C., Lin, J., Bruce, A. G., Knight, M., Danks, D. M., Cashman, J. R., Forrest, S. M.
Zdroj: Human Molecular Genetics; May98, Vol. 7 Issue 5, p839, 7p
Abstrakt: Explains how mutations in the human flavin-containing monooxygenase isoform 3 (FMO3) gene impair N-oxygenation of xenobiotics and are responsible for the trimethylaminuria phenotype. Clinical characterization of patient cohort; Genomic organization of FMO3; Missense and nonsense mutations in FMO3; Haplotype analysis.
Databáze: Complementary Index