Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants

Monoamine oxidase A (MAO‐A) deficiency is a rare inborn error of metabolism with impaired degradation of biogenic amines including 5‐hydroxytryptamine (5‐HT), resulting in borderline intellectual disability and behavioral abnormalities. Genetic variants in MAOA need functional confirmation to enable...

Descripción completa

Detalles Bibliográficos
Autores principales: Peters, Tessa M. A., Lammerts van Bueren, Irma, Geurtz, Ben P.B.H., Coene, Karlien L. M., de Leeuw, Nicole, Brunner, Han G., Jónsson, Jón J., Willemsen, Michèl A. A. P., Wevers, Ron A., Verbeek, Marcel M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932864/
https://www.ncbi.nlm.nih.gov/pubmed/33728254
http://dx.doi.org/10.1002/jmd2.12194

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7932864/
https://www.ncbi.nlm.nih.gov/pubmed/33728254
http://dx.doi.org/10.1002/jmd2.12194

Ejemplares similares