Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleFunctional characterization of missense variants in the creatine transporter gene ( SLC6A8): improved diagnostic application.AuthorsRosenberg, Efraim H.; Martínez Muñoz, Cristina; Betsalel, Ofir T.; van Dooren, Silvy J.M.; Fernandez, Matilde; Jakobs, Cornelis; deGrauw, Ton J.; Kleefstra, Tjitske; Schwartz, Charles E.; Salomons, Gajja S.PublicationHuman Mutation, 2007, Vol 28, Issue 9, p890ISSN1059-7794Publication typeArticleDOI10.1002/humu.20532