MUTATIONS PSEN1 73653568 GRCh37/hg19 A C Exon 5 Point, Missense Coding Increased Aβ42/Aβ40 ratio; increased Aβ42; decreased Aβ40. Brain biopsy of the frontal cortex showed numerous senile plaques and neurofibrillary tangles compatible with a diagnosis of AD. No spo
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