Article
Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series.
Neurobiology of aging - 1 Feb 2012
McNaughton Daniel, Knight William, Guerreiro Rita, Ryan Natalie, Lowe Jessica, Poulter Mark, Nicholl David J, Hardy John, Revesz Tamas, Lowe James, Rossor Martin, Collinge John, Mead Simon
Abstract excerpt
Amyloid precursor protein gene (APP) duplications have been identified in screens of selected probands with early onset familial Alzheimer's disease (FAD). A causal role for copy number variation (CNV) in the prion protein gene (PRNP) in prion dementias is not known. We aimed to determine the prevalence of copy number variation in APP and PRNP in a large referral series, test a screening method for detection of...
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