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Mutations in
MAPT
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1
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MAPT IVS10+3G>A
(g.123806G>A)
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IVS10
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Spillantini MG, 1997
Murrell JR, 1997
Spillantini MG, 1998
Tolnay M, 2000
Neumann M, 2005
Ghetti B, 2008
Spina S, 2008
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2
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MAPT IVS10+11T>C
(g.123814T>C)
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IVS10
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Miyamoto K, 2001
Kowalska A, 2002
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3
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MAPT IVS10+12C>T
(g.123815C>T)
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IVS10
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Takamatsu, 1998
Hutton M, 2000
Yasuda M, 2000
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4
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MAPT IVS10+13A>G
(g.123816A>G)
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IVS10
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Hutton M, 1998
Houlden H, 1999
Pickering-Brown SM, 2002
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5
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MAPT IVS10+14C>T
(g.123817C>T)
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IVS10
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Lynch T, 1994
Wilhelmsen KC, 1994
Sima AA, 1996
Hutton M, 1998
Clark LN, 1998
Morris HR, 2001
Rohrer JD, 2010
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6
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MAPT IVS10+16C>T
(g.123819C>T)
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IVS10
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Lanska DJ, 1994
Petersen RB, 1995
Brown J, 1996
Yamaoka LH, 1996
Dark F, 1997
Baker M, 1997
Hutton M, 1998
Goedert M, 1999
Houlden H, 1999
Hulette CM, 1999
Poorkaj P, 2001
Morris HR, 2001
Pickering-Brown SM, 2002
Janssen JC, 2002
Lantos PL, 2002
Tsuboi Y, 2003
Morris HR, 2003
Stanford PM, 2004
Doran M, 2007
Larner AJ, 2008
Colombo R, 2009
Rohrer JD, 2009
Larner AJ, 2009
Rohrer JD, 2010
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7
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MAPT IVS10+19C>G
(g.123822C>G)
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IVS10
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Stanford PM, 2003
Rohrer JD, 2009
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8
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MAPT IVS10+25C>T
(g.123828C>T)
Not pathogenic
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IVS10
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Roks G, 1999
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9
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MAPT IVS10+29G>A
(g.123832G>A)
Not pathogenic
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IVS10
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D'Souza I, 1999
Roks G, 1999
Stanford PM, 2003
Levchenko A, 2004
Brouwers N, 2006
Pickering-Brown SM, 2006
Lindquist S, 2009
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Selection: Gene = MAPT IVS10
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