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Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia

Progranulin (PGRN) mutations account for an average of 15% of familial FTD cases and 20% of total FTD cases worldwide. Here we investigated the frequency of PGRN mutations in FTD patients (n=116) from a clinical cohort of South India and detected one novel mutation located on exon 12 in a familial b...

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Vydáno v:Neurobiol Aging
Hlavní autoři: Aswathy, P M, Jairani, P S, Verghese, Joe, Gopala, Srinivas, Srinivas, Priya, Mathuranath, P S
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4775422/
https://ncbi.nlm.nih.gov/pubmed/26724960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2015.11.026
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