. Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?. Eur J Hum Genet. 2000 Apr;8(4):259-66. PubMed.

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Mutations

  1. PSEN1 S290C;T291_S319del (ΔE9Finn)