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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JIMD Rep
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley & Sons, Inc. 2019
Pynciau:
Case Reports
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6498820/
https://ncbi.nlm.nih.gov/pubmed/31240161
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12030
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