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A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
J Alzheimers Dis. 2014;39(1):23-7. doi: 10.3233/JAD-131340.
J Alzheimers Dis. 2014.
PMID: 24121961
Free PMC article.
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