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

Manju Kurian, J Zhen, SY Cheng, Y Li, SR Mordekar, P Jardine, Neil Morgan, Esther Meyer, Louise Tee, Shanaz Pasha, E Wassmer, SJ Heales, Paul Gissen, ME Reith, Eamonn Maher

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Medicine & Life Sciences