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pro vyhledávání: '"Francesca A Veneri"'
Autor:
Francesca A Veneri, Valeria Prada, Rosa Mastrangelo, Cinzia Ferri, Lucilla Nobbio, Mario Passalacqua, Maria Milanesi, Francesca Bianchi, Ubaldo Del Carro, Jean-Michel Vallat, Phu Duong, John Svaren, Angelo Schenone, Marina Grandis, Maurizio D’Antonio
Publikováno v:
Human Molecular Genetics. 31:4255-4274
Mutations in the Myelin Protein Zero gene (MPZ), encoding P0, the major structural glycoprotein of peripheral nerve myelin, are the cause of Charcot–Marie-Tooth (CMT) type 1B neuropathy, and most P0 mutations appear to act through gain-of-function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02db0b21a790052c7e2f89e6e4a8ac03
https://doi.org/10.1093/hmg/ddac170
https://doi.org/10.1093/hmg/ddac170
