TPP2 mutation associated with sterile brain inflammation mimicking MS

OBJECTIVE: To ascertain the genetic cause of a consanguineous family from Syria suffering from a sterile brain inflammation mimicking a mild nonprogressive form of MS. METHODS: We used homozygosity mapping and next-generation sequencing to detect the disease-causing gene in the affected siblings. In...

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Detalles Bibliográficos
Autores principales: Reinthaler, Eva M., Graf, Elisabeth, Zrzavy, Tobias, Wieland, Thomas, Hotzy, Christoph, Kopecky, Chantal, Pferschy, Sandra, Schmied, Christiane, Leutmezer, Fritz, Keilani, Mohammad, Lill, Christina M., Hoffjan, Sabine, Epplen, Jörg T., Zettl, Uwe K., Hecker, Michael, Deutschländer, Angela, Meuth, Sven G., Ahram, Mamoun, Mustafa, Baha, El-Khateeb, Mohammed, Vilariño-Güell, Carles, Sadovnick, A. Dessa, Zimprich, Fritz, Tomkinson, Birgitta, Strom, Tim, Kristoferitsch, Wolfgang, Lassmann, Hans, Zimprich, Alexander
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244017/
https://www.ncbi.nlm.nih.gov/pubmed/30533531
http://dx.doi.org/10.1212/NXG.0000000000000285

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