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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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Moretti P, Lieberman AP, Wilde EA, Giordani BI, Kluin KJ, Koeppe RA, Minoshima S, Kuhl DE, Seltzer WK, Foster NL. Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis. Neurology 62: 1865-1868, 2004 (PubMed ID: 15159497) |
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PSEN1:
(InsFI)
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ID: 318 | |
Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic
Selection:
Publication ID In (112,318)
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