A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function: Human molecular genetics

P Fratta, F Ornaghi, G Dati, D Zambroni, P Saveri, S Belin, P D'Adamo, M Shy, A Quattrini, ML Feltri, L Wrabetz

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Medicine & Life Sciences