Extended FTLD pedigree segregating a Belgian GRN-null mutation: neuropathological heterogeneity in one family

BACKGROUND: In this paper, we describe the clinical and neuropathological findings of nine members of the Belgian progranulin gene (GRN) founder family. In this family, the loss-of-function mutation IVS1 + 5G > C was identified in 2006. In 2007, a clinical description of the mutation carriers was...

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Detalles Bibliográficos
Autores principales: Sieben, Anne, Van Mossevelde, Sara, Wauters, Eline, Engelborghs, Sebastiaan, van der Zee, Julie, Van Langenhove, Tim, Santens, Patrick, Praet, Marleen, Boon, Paul, Miatton, Marijke, Van Hoecke, Sofie, Vandenbulcke, Mathieu, Vandenberghe, Rik, Cras, Patrick, Cruts, Marc, De Deyn, Peter Paul, Van Broeckhoven, Christine, Martin, Jean-Jacques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389176/
https://www.ncbi.nlm.nih.gov/pubmed/29370838
http://dx.doi.org/10.1186/s13195-017-0334-y

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