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A novel phenotype in an Italian family with a rare progranulin mutation

INTRODUCTION: Progranulin (PGRN) is a secreted glycoprotein encoded in humans by the GRN gene, located on chromosome 17q21. Several nonsense and missense pathogenetic GRN mutations have been described. OBJECTIVE: We herein describe two sisters carrying a rare GRN mutation with extremely different cl...

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Detalles Bibliográficos
Autores principales:	Russillo, Maria Claudia, Sorrentino, Cristiano, Scarpa, Alfonso, Vinciguerra, Claudia, Cicarelli, Giulio, Cuoco, Sofia, Gagliardi, Monica, Talarico, Mariagrazia, Procopio, Radha, Quattrone, Andrea, Barone, Paolo, Pellecchia, Maria Teresa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2022
Materias:	Neurological Update
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553792/ https://www.ncbi.nlm.nih.gov/pubmed/35859258 http://dx.doi.org/10.1007/s00415-022-11285-7

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