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Mutations in
PSEN1
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1
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PSEN1 Met233Thr
(g.44717T>C)
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EX7
TM-V |
Kwok JB, 1997
Campion D, 1999
Raux G, 2005
Park HK, 2008
Guerreiro RJ, 2010
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2
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PSEN1 Pro264Leu
(g.49976C>T)
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EX8
HL-VI a |
Campion D, 1995
Wasco W, 1995
Kwok JB, 1997
Poorkaj P, 1998
Campion D, 1999
Jacquemont ML, 2002
Miravalle L, 2002
Raux G, 2005
Dumanchin C, 2006
Martikainen P, 2010
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3
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PSEN1 Arg278Thr
(g.50018G>C)
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EX8
HL-VI a |
Kwok JB, 1997
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4
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PSEN1 Glu280Ala
(g.50024A>C)
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EX8
HL-VI (MA) |
Clark RF, 1995
Tanahashi H, 1996
Kwok JB, 1997
Lendon CL, 1997
Jacquier M, 2000
Arango D, 2001
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5
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PSEN1 Δ9
(g.56305_62162del)
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IVS8-IVS9
HL-VI (MA) |
Kwok JB, 1997
Kwok JBJ, 2000
Smith MJ, 2001
Halliday GM, 2005
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6
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PSEN1 Δ9
(g.58304G>T)
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IVS8
HL-VI (MA) |
Perez-Tur J, 1995
Hutton M, 1996
Kwok JB, 1997
Kwok JBJ, 2000
Rogaeva EA, 2001
Brooks WS, 2003
Halliday GM, 2005
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Selection: Publication ID = 25
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