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Mutations in
PSEN1
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1
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PSEN1 Arg377Met
(g.69044G>T)
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EX11
TM-VII |
Janssen JC, 2002
Janssen JC, 2003
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2
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PSEN1 Gly378Glu
(g.69047G>A)
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EX11
TM-VII |
Besançon R, 1998
Finckh U, 2005
Ikeuchi T, 2008
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3
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PSEN1 Gly378Val
(g.69047G>T)
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EX11
TM-VII |
Janssen JC, 2002
Janssen JC, 2003
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4
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PSEN1 Leu381Val
(g.69055C>G)
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EX11
TM-VII |
Mehrabian S, 2004
Ikeuchi T, 2008
Traykov DL, 2009
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5
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PSEN1 Gly384Ala
(g.69065G>C)
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EX11
TM-VII |
Cruts M, 1995
Tanahashi H, 1996
Kamimura K, 1998
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6
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PSEN1 Phe386Ser
(g.69071T>C)
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EX11
TM-VII |
Raux G, 2005
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7
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PSEN1 Ser390Ile
(g.69083G>T)
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EX11
TM-VII |
Campion D, 1999
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8
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PSEN1 Val391Phe
(g.69085G>T)
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EX11
TM-VII |
Raux G, 2005
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9
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PSEN1 Leu392Val
(g.69088C>G)
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EX11
TM-VII |
Campion D, 1995
Campion D, 1995
Rogaev EI, 1995
Campion D, 1999
Raux G, 2005
Ikeuchi T, 2008
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10
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PSEN1 Leu392Pro
(g.69089T>C)
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EX11
TM-VII |
Tedde A, 2000
Sorbi S, 2002
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11
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PSEN1 Gly394Val
(g.69095G>T)
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EX11
TM-VII |
Rogaeva EA, 2001
Batelli S, 2008
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12
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PSEN1 Asn405Ser
(g.69128A>G)
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EX11
HL-VII |
Yasuda M, 2000
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13
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PSEN1 Ala409Thr
(g.69139G>A)
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EX11
TM-VIII |
Aldudo J, 1999
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14
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PSEN1 Cys410Tyr
(g.69143G>A)
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EX11
TM-VIII |
Campion D, 1995
Sherrington R, 1995
Cervenakova L, 1996
Poorkaj P, 1998
Campion D, 1999
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15
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PSEN1 Val412Ile
(g.69148G>A)
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EX11
TM-VIII |
Bernardi L, 2009
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16
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PSEN1 Leu381Val
(g.69118C>G)
Pathogenic nature unclear
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EX11
TM-VII |
Traykov L, 2009
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Selection: Gene = PSEN1 EX11
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