Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

Grossi, Serena, Regis, Stefano, Biancheri, Roberta, Mort, Matthew, Lualdi, Susanna, Bertini, Enrico, Uziel, Graziella, Boespflug-Tanguy, Odile, Simonati, Alessandro, Corsolini, Fabio, Demir, Ercan, Marchiani, Valentina, Percesepe, Antonio, Stanzial, Franco, Rossi, Andrea, Vaurs-Barrière, Catherine, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Filocamo, Mirella 2011. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Orphanet Journal of Rare Diseases 6 , 40. 10.1186/1750-1172-6-40

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Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	BioMed Central
ISSN:	1750-1172
Last Modified:	17 Jun 2023 19:37
URI:	https://orca.cardiff.ac.uk/id/eprint/84085

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