A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

@article{PrezTur1995AMI,
  title={A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.},
  author={Jordi P{\'e}rez-Tur and Susanne Froelich and Guy Prihar and Richard C Crook and Matt Baker and Karen E Duff and M A Wragg and Frances Busfield and Corinne L. Lendon and R. F. Clark},
  journal={Neuroreport},
  year={1995},
  volume={7 1},
  pages={297-301}
}
A series of mutations has been reported in the presenilin-1 (PS-1) gene which cause early onset Alzheimer's disease (AD). The mutations reported to date have encoded missense mutations which alter residues conserved between PS-1 and the presenilin-2 (PS-2) gene. We have recently determined the intron/exon structure of the PS-1 gene and this information has been used to identify a mutation in the splice acceptor site for exon 9 in a family with early onset AD. Amplification of cDNA from… CONTINUE READING