Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

Genetic variants of the SLC6A3 gene that encodes the human dopamine transporter (DAT) have been linked to a variety of neuropsychiatric disorders, particularly attention deficit hyperactivity disorder. In addition, the homozygous Slc6a3 knockout mouse displays a hyperactivity phenotype. Here, we ana...

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Main Authors: Kurian, Manju A., Zhen, Juan, Cheng, Shu-Yuan, Li, Yan, Mordekar, Santosh R., Jardine, Philip, Morgan, Neil V., Meyer, Esther, Tee, Louise, Pasha, Shanaz, Wassmer, Evangeline, Heales, Simon J.R., Gissen, Paul, Reith, Maarten E.A., Maher, Eamonn R.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2009
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2689114/
https://ncbi.nlm.nih.gov/pubmed/19478460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI39060
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