Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features

GRN, the gene coding for the progranulin (PGRN), was recognized as a gene linked to frontotemporal lobar degeneration (FTLD). The first mutations identified were null mutations giving rise to haploinsufficiency. Missense mutations were subsequently detected but only a small subset has been functiona...

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Detalhes bibliográficos
Publicado no:Neurobiol Aging
Main Authors: Karch, Celeste M, Ezerskiy, Lubov, Redaelli, Veronica, Giovagnoli, Annarita, Tiraboschi, Pietro, Pelliccioni, Giuseppe, Pelliccioni, Paolo, Kapetis, Dimos, Ilaria, D'Amato, Piccoli, Elena, Ferretti, Maria Giulia, Fabrizio, Tagliavini, Rossi, Giacomina
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4738142/
https://ncbi.nlm.nih.gov/pubmed/26652843
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2015.10.029
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