Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.

Valayannopoulos V, Bakouh N, Mazzuca M, Nonnenmacher L, Hubert L, Makaci FL, Chabli A, Salomons GS, Mellot-Draznieks C, Brule E, de Lonlay P, Toulhoat H, Munnich A, Planelles G, de Keyzer Y
J Inherit Metab Dis. 2013 Jan;36(1):103-12. doi: 10.1007/s10545-012-9495-9. Epub 2012 May 30. PubMed Article

Plasmids from Article

No plasmids are currently publicly available from Addgene for this article.