Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging. 2010 May;31(5):725-31. Epub 2008 Jul 30 PubMed.
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Mutations
- APP I716F (Iberian)
- APP H733P
- PSEN2 R29H
- PSEN1 V191A
- PSEN1 H214D
- PSEN1 L248R
- PSEN1 S365A
- PSEN2 L143H
- PSEN2 M174V
- PSEN2 A252T
- APP V715A (German)
- APP L723P (Australian)
- PSEN1 R35Q
- PSEN1 Y115C
- PSEN1 T116N
- PSEN1 T116I
- PSEN1 H214Y
- PSEN1 M233T
- PSEN1 M233I (G>C)
- PSEN1 A260V
- PSEN1 R269H
- PSEN1 V272A
- PSEN2 R62H
- PSEN2 R71W
- PSEN2 S130L
- PSEN2 S175C
- PSEN1 A275V
- PSEN1 A434T
- PSEN1 I168del (TTAdel)
- PSEN1 L248P
- PSEN1 F105C
- APP D678H (Taiwanese)
- PSEN1 L166V
- PSEN1 S230R
- MAPT V300I
- PSEN1 S230I
- PSEN2 A237V
- APP Y538H
- APP A201V
- APP E599K
- MAPT V224G
- MAPT G213R
- MAPT G200E
- PSEN1 L235R
- PSEN1 L150P
- PSEN1 L262V
- PSEN1 E273G
- PSEN1 R377W
- PSEN2 K161R
- PSEN1 L134R
- PSEN1 A246P
- PSEN1 V142F
- PSEN1 S230N
- PSEN1 I416T
- PSEN1 F237C
- PSEN1 M84T
- PSEN1 P88H
- PSEN1 G111W
- PSEN1 P117Q
- PSEN1 I180N
- PSEN1 F205_G206delinsC
- PSEN1 M210R
- PSEN1 L241R
- PSEN1 A360T
- MAPT P397S
- APP V669L (Seoul)
- PSEN2 N141D
- PSEN1 F175del
- PSEN1 V103G
- PSEN2 V150M
- PSEN2 R163C
- PSEN1 I168dup
- PSEN2 A415S
- PSEN2 M174I
- PSEN1 L226V
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