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A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets
Manisha Padmakumar, Jaak Jaeken, Vincent Ramaekers, Lieven Lagae, Daniel Greene, Chantal Thys, Chris Van Geet, NIHR BioResource, Kathleen Stirrups, Kate Downes, Ernest Turro, Kathleen Freson
JIMD Rep. 2019 May; 47(1): 9–16. Published online 2019 Mar 25. doi: 10.1002/jmd2.12030
PMCID:
PMC6498820
AbstractArticlePDF–4.6M

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