Mutations in PSEN1


	Mutation	Exon / Domain	Citations

1	PSEN1 Cys92Ser (g.22960G>C)	EX4 TM-I	Sorbi S, 2002 Tedde A, 2003

2	PSEN1 Leu174Met (g.38817C>A)	EX6 TM-III	Bertoli-Avella AM, 2002 Sorbi S, 2002 Bertoli Avella AM, 2002

3	PSEN1 Leu392Pro (g.69089T>C)	EX11 TM-VII	Tedde A, 2000 Sorbi S, 2002

Mutations in PSEN2


	Mutation	Exon / Domain	Citations

1	PSEN2 Ser130Leu (g.3661C>T) Pathogenic nature unclear	EX5 HL-I	Sorbi S, 2002 Tedde A, 2003 Li D, 2006 Tomaino C, 2007

Selection: Publication ID = 124

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