A nonsense mutation in Myelin Protein Zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function
Pietro Fratta, Francesca Ornaghi, Gabriele Dati, Desirée Zambroni, Paola Saveri, Sophie Belin, Patrizia D’Adamo, Michael E. Shy, Angelo Quattrini, M. Laura Feltri, Lawrence G. Wrabetz
Human Molecular Genetics · Sep 18, 2018Peer-reviewedNeuroscience