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Title
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Gene expression study on peripheral blood identifies progranulin mutations
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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Annals of neurology. - Boston, Mass.
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Publication
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Boston, Mass.
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2008
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ISSN
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0364-5134
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DOI
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10.1002/ANA.21397
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Volume/pages
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64
:1
(2008)
, p. 92-96
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ISI
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000258199900013
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Full text (Publisher's DOI)
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