Mutations in PSEN1


	Mutation	Exon / Domain	Citations

1	PSEN1 Glu318Gly (g.58389A>G) Not pathogenic	EX9 HL-VI b	Sandbrink R, 1996 Cruts M, 1998 Aldudo J, 1998 Mattila KM, 1998 Dermaut B, 1999 Helisalmi S, 2000 Goldman JS, 2005 Raux G, 2005 Batelli S, 2008 Bernardi L, 2008 Gallo M, 2008 Lindquist S, 2009

Mutations in PSEN2


	Mutation	Exon / Domain	Citations

1	PSEN2 Val139Met (g.3687G>A) Pathogenic nature unclear	EX5 HL-I	Bernardi L, 2008 Gallo M, 2008

Selection: Publication ID = 607

Note! When using AD&FTDMDB, please consult the How To Cite page for information on how to cite AD&FTDMDB in your publication.