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Paper Details

A novel missense variant in <i>SLC18A2</i> causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
JIMD Rep
16
2019
Brain monoamine vesicular transport disease, L-DOPA, Platelet, SLC18A2, VMAT2, VMAT2 deficiency, adenosine triphosphate, blood cells, child, epilepsy, gastrointestinal problems, hypotonia, mental disability, model cells, monoamine, monoamines, neurodevelopmental disorder, neurological diseases, p, patient, platelet, platelet dense, platelets, recessive brain monoamine vesicular transport disease, serotonin, synaptic, uncontrolled movements, vesicular monoamine transporter 2
Author NameAffiliation
Jaak Jaeken
Daniel GreeneCambridge University Hospitals
Daniel GreeneDepartment of Hematology University of Cambridge
Daniel GreeneMedical Research Council Biostatistics Unit, Cambridge Institute of Public Health
Chris Van Geet
Kathleen StirrupsCambridge University Hospitals
Kathleen StirrupsDepartment of Hematology University of Cambridge
Kathleen StirrupsCambridge University Hospitals
Kathleen StirrupsDepartment of Hematology University of Cambridge
Kate Downes
Kate DownesDepartment of Hematology University of Cambridge
Kate DownesCambridge University Hospitals
Ernest Turro
Ernest TurroMedical Research Council Biostatistics Unit, Cambridge Institute of Public Health
Ernest TurroDepartment of Hematology University of Cambridge
Ernest TurroCambridge University Hospitals
Ernest Turro
Ernest TurroCambridge University Hospitals
Ernest TurroDepartment of Hematology University of Cambridge
Ernest TurroMedical Research Council Biostatistics Unit, Cambridge Institute of Public Health
Kathleen Freson
Kathleen Freson
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Release 1.2