Publications

Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, Harvey RJ, Houlden H, Rossor MN, Collinge J. Early onset familial Alzheimer's disease: mutation frequency in 31 families. Neurobiology of Aging 23 (1S): S311, 2002
Mutations	*APP: (Val715Ala; German APP) (Val717Ile; London APP) PSEN1*: (Intron4; InsTAC) (Tyr115Cys) (Met146Ile) (Leu153Val) (Tyr154Cys) (ΔI167;ΔI168) (Leu171Pro) (Glu184Asp) (Ile229Phe) (Leu235Val) (Phe237Leu) (Ala260Val) (Cys263Phe) (Arg269His) (Arg377Met) (Gly378Val)
ID: 132
Janssen JC, Beck JA, Campbell TA, Dickinson A, Fox NC, Harvey RJ, Houlden H, Rossor MN, Collinge J. Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology 60: 235-239, 2003 (PubMed ID: 12552037)
Mutations	*APP: (His677Arg) (Val715Ala; German APP) (Val717Ile; London APP) PSEN1*: (Intron4; InsTAC) (Tyr115Cys) (Met146Ile) (Leu153Val) (Tyr154Cys) (ΔI167;ΔI168) (Leu171Pro) (Glu184Asp) (Ile229Phe) (Leu235Val) (Phe237Leu) (Ala260Val) (Cys263Phe) (Arg269His) (Arg377Met) (Gly378Val)
ID: 149

Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic

Selection:
Publication ID In (132,149)

Alzheimer Disease & Frontotemporal Dementia Mutation Database