Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration

Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease with an age at onset generally below 65 years. Mutations in progranulin (GRN) have been reported to be able to cause FTLD through haploinsufficiency. We have sequenced GRN in 121 patients with FTLD and detected six d...

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Autori principali: Chiang, Huei-Hsin, Forsell, Charlotte, Lilius, Lena, Öijerstedt, Linn, Thordardottir, Steinunn, Shanmugarajan, Krishnan, Westerlund, Marie, Nennesmo, Inger, Thonberg, Håkan, Graff, Caroline
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3798842/
https://ncbi.nlm.nih.gov/pubmed/23463024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.37
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