• Mutation; HGNC; HGNC:9508; PSEN1; Simple; p.Ala246Glu (c.737C>A); ClinVar=VCV000018125; Zygosity=Unspecified (from inference of kindred).
  

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McCoy K.R., Mullins R.D., Newcomb T.G., Ng G.M., Pavlinkova G., Polinsky R.J., Nee L.E., Sisken J.E.
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CLPUB00597
National Institute on Aging
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(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

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Etcheberrigaray R., Gibson G.E., Alkon D.L.
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PubMed=8643543; DOI=10.1073/pnas.93.10.5146; PMCID=PMC39422
Parshad R., Sanford K.K., Price F.M., Melnick L.K., Nee L.E., Schapiro M.B., Tarone R.E., Robbins J.H.
Fluorescent light-induced chromatid breaks distinguish Alzheimer disease cells from normal cells in tissue culture.
Proc. Natl. Acad. Sci. U.S.A. 93:5146-5150(1996)

Patent=US5773219
Sanford K.K., Parshad R., Robbins J.H.
Process for detecting Alzheimer disease using cultured cells.
Patent number US5773219, 30-Jun-1998