|
Mutations in
PSEN1
|  |
|
|
|
|
| |
|
1
|
PSEN1 Glu120Asp
(g.25563A>C)
|
EX5
HL-I |
Poorkaj P, 1998
Campion D, 1999
Raux G, 2005
|
|  |
|
2
|
PSEN1 His163Arg
(g.38785A>G)
|
EX6
HL-II |
Campion D, 1995
Sherrington R, 1995
Tanahashi H, 1995
Boteva K, 1996
Kamino K, 1996
Poduslo SE, 1996
Cervenakova L, 1996
Reznik-Wolf H, 1996
Tanahashi H, 1996
Poorkaj P, 1998
Kamimura K, 1998
Campion D, 1999
Rogaeva EA, 2001
Lleo A, 2002
Zekanowski C, 2003
Gómez-Tortosa E, 2008
Gómez-Tortosa E, 2010
|
| |
|
3
|
PSEN1 Gly209Val
(g.44645G>T)
|
EX7
TM-IV |
Poorkaj P, 1998
|
| |
|
4
|
PSEN1 Ala260Val
(g.49964C>T)
|
EX8
TM-VI |
Rogaev EI, 1995
Ikeda M, 1996
Poorkaj P, 1998
Janssen JC, 2002
Janssen JC, 2003
Guerreiro RJ, 2010
|
| |
|
5
|
PSEN1 Pro264Leu
(g.49976C>T)
|
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
|
| |
|
6
|
PSEN1 Cys410Tyr
(g.69143G>A)
|
EX11
TM-VIII |
Campion D, 1995
Sherrington R, 1995
Cervenakova L, 1996
Poorkaj P, 1998
Campion D, 1999
|
| |
|
7
|
PSEN1 Ala426Pro
(g.71080G>C)
|
EX12
TM-VIII |
Poorkaj P, 1998
|
| |
Selection: Publication ID = 8
Note! When using AD&FTDMDB, please consult the How To Cite page for information on how to cite AD&FTDMDB in your publication.
|
