Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Mutations in GRN

Mutation

Exon /
Domain

Citations

1

GRN Leu14
   (g.42G>A)

   Not pathogenic

EX2
Signal peptide

Guerreiro RJ, 2008
Guerreiro RJ, 2010

2

GRN Asp128
   (g.1098T>C)

   Not pathogenic

EX5
GranF

Gass J, 2006
van der Zee J, 2007
Guerreiro RJ, 2008
Sleegers K, 2008
Tremolizzo L, 2009
Guerreiro RJ, 2010
Del Bo R, 2011

3

GRN Thr182Met
   (g.1360C>T)

   Not pathogenic

EX6
InterFB

Bronner IF, 2007
Schymick J, 2007
Guerreiro RJ, 2008
Guerreiro RJ, 2010

4

GRN Gly302fs
   (g.2266_2267insTG)

EX9
GranA

Guerreiro RJ, 2008


Selection: Publication ID = 526



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