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 N; Filocamo, Mirella

doi:10.1186/1750-1172-6-40

Orphanet Journal of Rare Diseases

Article metrics
Last updated: Fri, 26 Apr 2024 16:07:52 Z

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Access & Citations

8772

Article Accesses
30

Web of Science
26

CrossRef

Citation counts are provided from Web of Science and CrossRef. The counts may vary by service, and are reliant on the availability of their data. Counts will update daily once available.

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com