Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.

Hansen FH, Skjørringe T, Yasmeen S, Arends NV, Sahai MA, Erreger K, Andreassen TF, Holy M, Hamilton PJ, Neergheen V, Karlsborg M, Newman AH, Pope S, Heales SJ, Friberg L, Law I, Pinborg LH, Sitte HH, Loland C, Shi L, Weinstein H, Galli A, Hjermind LE, Møller LB, Gether U
J Clin Invest. 2014 124 (7): 3107-20

PMID: 24911152 · PMCID: PMC4071392 · DOI:10.1172/JCI73778

MeSH Terms (28)

Adult Amino Acid Sequence Amino Acid Substitution Animals Attention Deficit Disorder with Hyperactivity Brain Cohort Studies DNA Mutational Analysis Dopamine Dopamine Plasma Membrane Transport Proteins Female HEK293 Cells Humans Male Models, Molecular Molecular Sequence Data Mutant Proteins Mutation, Missense Oocytes Parkinsonian Disorders Pedigree Positron-Emission Tomography Protein Conformation Recombinant Proteins Sequence Homology, Amino Acid Sodium Tomography, Emission-Computed, Single-Photon Xenopus

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