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Mutations in APP


	Mutation	Exon / Domain	Citations

1	APP Val717Ile; London APP (g.275341G>A)	EX17 TM-I	Goate A, 1991 Naruse S, 1991 Hardy J, 1991 Yoshioka K, 1991 Fidani L, 1992 Sorbi S, 1993 Yoshizawa T, 1993 Sorbi S, 1995 Brooks WS, 1995 Matsumura Y, 1996 Campion D, 1996 Campion D, 1999 Finckh U, 2000 De Jonghe C, 2001 Janssen JC, 2002 Janssen JC, 2003 Tedde A, 2003 Finckh U, 2005 Raux G, 2005 Brouwers N, 2006

Mutations in PSEN1


	Mutation	Exon / Domain	Citations

1	PSEN1 Ala79Val (g.22921C>T)	EX4 N-Term	Cruts M, 1998 Finckh U, 2000 Rogaeva EA, 2001 Miravalle L, 2002 Kauwe JS, 2007

2	PSEN1 Phe105Leu (g.23000T>G)	EX4 HL-I	Finckh U, 2000

3	PSEN1 Met139Val (g.25618A>G)	EX5 TM-II	Clark RF, 1995 Boteva K, 1996 Hutton M, 1996 Sandbrink R, 1996 Fox NC, 1997 Hüll M, 1998 Palmer MS, 1999 Finckh U, 2000 Larner AJ, 2003 Rippon GA, 2003 Zekanowski C, 2003

Mutations in PSEN2


	Mutation	Exon / Domain	Citations

1	PSEN2 Thr122Pro (g.3636A>C)	EX5 HL-I	Finckh U, 2000 Finckh U, 2005

2	PSEN2 Met239Ile (g.7073G>A)	EX7 TM-V	Finckh U, 2000 Finckh U, 2000

Selection: Publication ID = 68

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