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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350523/
https://www.ncbi.nlm.nih.gov/pubmed/25313507
http://dx.doi.org/10.1038/tp.2014.90

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350523/
https://www.ncbi.nlm.nih.gov/pubmed/25313507
http://dx.doi.org/10.1038/tp.2014.90

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