المؤلفون: Ugur Akpulat, Emma L. Baple, Claire G. Salter, Holly Hardy, Mert Karakaya, Randy D. Blakely, Gaurav V. Harlalka, Fulya Taylan, Mark Russell, Barry A. Chioza, Burkhardt Stüve, Andrew H. Crosby, Katy E.S. Barwick, Omar A. Abdul-Rahman, Osama Refai, Holly H. Zimmerman, Thomas Sejersen, John K. Chilton, Joachim Weis, Jane Wright, Sebahattin Cirak, Haicui Wang, Ulrike Schara, Malin Kvarnung

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Mutation, Missense, Presynaptic Terminals, Medizin, macromolecular substances, Biology, Gene mutation, Neuromuscular junction, Frameshift mutation, Animals, Genetically Modified, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Animals, Humans, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Myasthenic Syndromes, Congenital, Genetics, Symporters, Homozygote, Brain, Infant, Membrane Transport Proteins, Transporter, Original Articles, Congenital myasthenic syndrome, medicine.disease, Axons, Pedigree, Choline transporter, Protein Transport, HEK293 Cells, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, nervous system, Neurodevelopmental Disorders, Child, Preschool, Cholinergic, Female, Neurology (clinical), Atrophy, 030217 neurology & neurosurgery, Acetylcholine, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbd8088b5fbc5456351f3bc402e6385
https://www.ncbi.nlm.nih.gov/pubmed/29088354