Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

BACKGROUND: Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize T...

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Detalles Bibliográficos
Autores principales: Guo, Yiran, Hwang, Liang-Dar, Li, Jiankang, Eades, Jason, Yu, Chung Wen, Mansfield, Corrine, Burdick-Will, Alexis, Chang, Xiao, Chen, Yulan, Duke, Fujiko F., Zhang, Jianguo, Fakharzadeh, Steven, Fennessey, Paul, Keating, Brendan J., Jiang, Hui, Hakonarson, Hakon, Reed, Danielle R., Preti, George
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310055/
https://www.ncbi.nlm.nih.gov/pubmed/28196478
http://dx.doi.org/10.1186/s12881-017-0369-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310055/
https://www.ncbi.nlm.nih.gov/pubmed/28196478
http://dx.doi.org/10.1186/s12881-017-0369-8

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