Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

D, Campion; JM, Flaman; A, Brice; D, Hannequin; B, Dubois; C, Martin; V, Moreau; F, Charbonnier; O, Didierjean; S, Tardieu

doi:10.1093/hmg/4.12.2373

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Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

Shared by NobleBlocks on Dec 1, 1995 • 12:00 AM UTC

Authors:

Campion D

Flaman JM

Brice A

Abstract

We analyzed 12 families with autosomal dominant early-onset Alzheimer' s disease (EOAD)for mutations in the coding region of the presenilin I (PSNLI) gene corresponding to the AD3 locus on chromosome 14q24.3. A total of eight missense mutations at codons 82, 115, 139, 163, 231, 264, 392, and 410 inc...

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