Mutations in APP

Mutations in PSEN1


	Mutation	Exon / Domain	Citations

1	PSEN1 Val94Met (g.22965G>A)	EX4 TM-I	Jacquier M, 2000 Arango D, 2001

2	PSEN1 Ile143Thr (g.25631T>C)	EX5 TM-II	Cruts M, 1995 Rogaeva EA, 2001 Arango D, 2001 Miravalle L, 2002 Raux G, 2005 Arai N, 2008

3	PSEN1 Glu280Ala (g.50024A>C)	EX8 HL-VI (MA)	Clark RF, 1995 Tanahashi H, 1996 Kwok JB, 1997 Lendon CL, 1997 Jacquier M, 2000 Arango D, 2001

Selection: Publication ID = 119

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