A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.
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| Title: | A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. |
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| Authors: | Padmakumar M; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium., Jaeken J; Department of Development and Regeneration, Pediatrics KU Leuven Leuven Belgium., Ramaekers V; Department of Neuropediatrics Centre Hospitalier Universitaire Notre-Dame des Bruyères Liége Belgium., Lagae L; Department of Development and Regeneration, Pediatrics KU Leuven Leuven Belgium., Greene D; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK.; Department of Haematology, Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus Cambridge UK., Thys C; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium., Van Geet C; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium., BioResource N; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK., Stirrups K; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK., Downes K; Department of Haematology, NHS Blood and Transplant, Cambridge Biomedical Campus Cambridge UK.; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK., Turro E; Department of Haematology, NHS Blood and Transplant, Cambridge Biomedical Campus Cambridge UK.; NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus Cambridge UK.; Department of Hematology University of Cambridge, Cambridge Biomedical Campus Cambridge UK.; Department of Haematology, Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus Cambridge UK., Freson K; Department of Cardiovascular Sciences Centre for Molecular and Vascular Biology, KU Leuven Leuven Belgium. |
| Source: | JIMD reports [JIMD Rep] 2019 Mar 25; Vol. 47 (1), pp. 9-16. Date of Electronic Publication: 2019 Mar 25 (Print Publication: 2019). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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