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

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K.R. McCoy, Roland Dyche Mullins, Terry G. Newcomb, Grace M. Ng, Gabriela Pavlinkova, Ronald J. Polinsky, Linda E. Nee, Jesse E. Sisken;
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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)

PubMed=7847674; DOI=10.1111/j.1749-6632.1994.tb44413.x
Rene Etcheberrigaray, Gary E. Gibson, Daniel Leon Alkon;
Molecular mechanisms of memory and the pathophysiology of Alzheimer's disease.
Ann. N. Y. Acad. Sci. 747:245-255(1994)

PubMed=8643543; DOI=10.1073/pnas.93.10.5146; PMCID=PMC39422
Ram Parshad, Katherine Koontz Sanford, Floyd M. Price, Lynn K. Melnick, Linda E. Nee, Mark B. Schapiro, Robert E. Tarone, Jay H. Robbins;
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
Katherine Koontz Sanford, Ram Parshad, Jay H. Robbins;
Process for detecting Alzheimer disease using cultured cells.
Patent number US5773219, 30-Jun-1998