This decommissioned ERA site remains active temporarily to support our final migration steps to https://ualberta.scholaris.ca, ERA's new home. All new collections and items, including Spring 2025 theses, are at that site. For assistance, please contact erahelp@ualberta.ca.
Other Publications (Medicine and Dentistry)
Items in this Collection
-
The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/ SLC5A7) causes a lethal form of fetal akinesia syndrome
Download2019-05-15
Banerjee, M, Arutyunov, D, Brandwein, D, Janetzki-Flatt, C, Kolski, H, Hume, S, Leonard, NJ, Watt, J, Lacson, A, Baradi, M, Leslie, EM, Cordat, E, Caluseriu, O
A subset of a larger and heterogeneous class of disorders, the congenital myasthenic syndromes (CMS) are caused by pathogenic variants in genes encoding proteins that support the integrity and function of the neuromuscular junction (NMJ). A central component of the NMJ is the...