Article
Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.
Neurobiology of aging - 1 Jan 2017
Barber Imelda S, Braae Anne, Clement Naomi, Patel Tulsi, Guetta-Baranes Tamar, Brookes Keeley, Medway Christopher, Chappell Sally, Guerreiro Rita, Bras Jose, Hernandez Dena, Singleton Andrew, Hardy John, Mann David M, Morgan Kevin
Abstract excerpt
We have screened sporadic early-onset Alzheimer's disease (sEOAD, n = 408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found 2 sEOAD individuals harboring a known causative variant in PARK2 known to cause early-onset Parkinson's disease; p.T240M (n = 1) and p.Q34fs delAG (n = 1). In addition, we identified 3...
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