SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking

Emerging evidence associates dysfunction in the dopamine (DA) transporter (DAT) with the pathophysiology of autism spectrum disorder (ASD). The human DAT (hDAT; SLC6A3) rare variant with an Ala to Val substitution at amino acid 559 (hDAT A559V) was previously reported in individuals with bipolar dis...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Transl Psychiatry
Päätekijät: Bowton, E, Saunders, C, Reddy, I A, Campbell, N G, Hamilton, P J, Henry, L K, Coon, H, Sakrikar, D, Veenstra-VanderWeele, J M, Blakely, R D, Sutcliffe, J, Matthies, H J G, Erreger, K, Galli, A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2014
Aiheet:
Original Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4350523/
https://ncbi.nlm.nih.gov/pubmed/25313507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/tp.2014.90
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