Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.

@article{Poorkaj1998MissenseMI,
  title={Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.},
  author={Parvoneh Poorkaj and Vikram Sharma and Louise V.B. Anderson and E J Nemens and M. E. Alonso and Harry T. Orr and Joseph A White and Lee Heston and Thomas Bird and Gerard D. Schellenberg},
  journal={Human mutation},
  year={1998},
  volume={11 3},
  pages={216-21}
}
Mutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy-documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A426P, and E120D), two were previously reported mutations in new families, and three mutations were confirmed in previously published families. Two of these new mutations are found within predicted… CONTINUE READING
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