A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets

BACKGROUND: Brain monoamine vesicular transport disease is an infantile onset neurodevelopmental disorder caused by variants in SLC18A2, which codes for the vesicular monoamine transporter 2 (VMAT2) protein, involved in the transport of monoamines into synaptic vesicles and of serotonin into platele...

Descripción completa

Detalles Bibliográficos
Autores principales: Padmakumar, Manisha, Jaeken, Jaak, Ramaekers, Vincent, Lagae, Lieven, Greene, Daniel, Thys, Chantal, Van Geet, Chris, BioResource, NIHR, Stirrups, Kathleen, Downes, Kate, Turro, Ernest, Freson, Kathleen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498820/
https://www.ncbi.nlm.nih.gov/pubmed/31240161
http://dx.doi.org/10.1002/jmd2.12030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498820/
https://www.ncbi.nlm.nih.gov/pubmed/31240161
http://dx.doi.org/10.1002/jmd2.12030

Ejemplares similares