Novel Progranulin Mutation Detected in 2 Patients With FTLD

Frontotemporal lobar degeneration (FTLD) with ubiquitin-positive, tau-negative inclusions, and linkage to chromosome 17 was recently found to be caused by mutations in the progranulin (PGRN) gene. In this study, we screened a group of 51 FTLD patients for PGRN mutations and identified a novel exon 6...

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Библиографические подробности
Главные авторы: Skoglund, Lena, Matsui, Toshifumi, Freeman, Stefanie H., Wallin, Anders, Blom, Elin S., Frosch, Matthew P., Growdon, John H., Hyman, Bradley T., Lannfelt, Lars, Ingelsson, Martin, Glaser, Anna
Формат: Artigo
Язык:Inglês
Опубликовано: 2011
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3710288/
https://ncbi.nlm.nih.gov/pubmed/20975516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/WAD.0b013e3181fbc22c
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