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Autor:
Midhat Rizvi, Tina K Truong, Janet Zhou, Manav Batta, Ellen S Moran, John Pappas, Mary Lynn Chu, Oana Caluseriu, Gilad D Evrony, Elaine M Leslie, Emmanuelle Cordat
Publikováno v:
Human molecular genetics.
Congenital myasthenic syndrome (CMS) is a heterogeneous condition associated with 34 different genes, including SLC5A7, which encodes the high-affinity choline transporter 1 (CHT1). CHT1 is expressed in presynaptic neurons of the neuromuscular juncti