Publication
Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi, Catherine Vaurs-Barrière, David N Cooper, Mirella Filocamo
Orphanet Journal of Rare Diseases, January 2011, Springer Science + Business Media
DOI: 10.1186/1750-1172-6-40