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Publications
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Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. Neurology 57: 621-625, 2001 (PubMed ID: 11524469) |
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PSEN1:
(Arg35Gln)
(Ala79Val)
(Intron4; InsTAC)
(Tyr115Cys)
(Thr116Asn)
(Ile143Thr)
(Met146Leu)
(Met146Val)
(Met146Leu)
(Met146Ile)
(InsFI)
(His163Arg)
(Phe177Leu)
(Phe177Ser)
(Ser178Pro)
(Gly206Ser)
(Gly206Ala)
(Gly209Glu)
(Ile213Leu)
(Gln222Arg)
(Ala231Thr)
(Met233Leu)
(Leu235Pro)
(Val261Phe)
(Thr274Arg)
(Δ9)
(InsR352)
(Thr354Ile)
(Arg358Gln)
(Ser365Tyr)
(Gly394Val)
(Leu418Phe)
(Ala431Glu)
(Ala434Cys)
(Leu435Phe)
(Ile439Val)
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ID: 112 | |
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Athan ES, Williamson J, Ciappa A, Santana V, Romas SN, Lee JH, Rondon H, Lantigua RA, Medrano M, Torres M, Arawaka S, Rogaeva E, Song YQ, Sato C, Kawarai T, Fafel KC, Boss MA, Seltzer WK, Stern Y, St George-Hyslop P, Tycko B, Mayeux R. A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. Journal of the American Medical Association 286: 2256-2263, 2001 (PubMed ID: 11710891) |
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PSEN1:
(Gly206Ala)
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ID: 122 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (112,122)
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