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• W2062044008 abstract "Abstract Peripheral blood is a readily available tissue source allowing relatively noninvasive screening for a host of medical conditions. We screened total‐blood progranulin ( PGRN ) levels in 107 patients with neurodegenerative dementias and related conditions, and 36 control subjects, and report the following findings: (1) confirmation of high progranulin expression levels in peripheral blood; (2) two subjects with reduced progranulin levels and mutations in the PGRN gene confirmed by direct sequencing; and (3) greater PGRN messenger RNA levels in patients with clinical diagnosis of Alzheimer's disease. This proof‐of‐principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease. Ann Neurol 2008." @default.
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• W2062044008 date "2008-06-12" @default.
• W2062044008 modified "2023-10-17" @default.
• W2062044008 title "Gene expression study on peripheral blood identifies progranulin mutations" @default.
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• W2062044008 doi "https://doi.org/10.1002/ana.21397" @default.
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