Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

BACKGROUND: Dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine transporter. We describe a cohort of children with mutations in the gene encoding the dopamine transporter (SLC6A3) with the aim to improve clinical and mo...

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Detalles Bibliográficos
Autores principales: Kurian, Manju A, Li, Yan, Zhen, Juan, Meyer, Esther, Hai, Nebula, Christen, Hans-Jürgen, Hoffmann, Georg F, Jardine, Philip, von Moers, Arpad, Mordekar, Santosh R, O'Callaghan, Finbar, Wassmer, Evangeline, Wraige, Elizabeth, Dietrich, Christa, Lewis, Timothy, Hyland, Keith, Heales, Simon JR, Sanger, Terence, Gissen, Paul, Assmann, Birgit E, Reith, Maarten EA, Maher, Eamonn R
Formato: Texto
Lenguaje:English
Publicado: Lancet Pub. Group 2010
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002401/
https://www.ncbi.nlm.nih.gov/pubmed/21112253
http://dx.doi.org/10.1016/S1474-4422(10)70269-6

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