Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
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چکیده
منابع مشابه
Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
BACKGROUND PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia. CASE PRESENTATION PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia of the Alzheimer type. We did not find the mutation in 614 control chromosomes. We also predicte...
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ژورنال
عنوان ژورنال: BMC Neurology
سال: 2014
ISSN: 1471-2377
DOI: 10.1186/1471-2377-14-105