Wallon D, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Moreaud O, Gabelle A, Sellal F, Sauvée M, Laquerrière A, Duyckaerts C, Delisle MB, Streichenberger N, Lannes B, Frebourg T, Hannequin D, Campion D. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. J Alzheimers Dis. 2012 Jan 1;30(4):847-56. PubMed.
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Mutations
- PSEN1 S230I
- PSEN1 L150P
- PSEN1 E184G
- PSEN1 M233I (G>A)
- PSEN1 L262V
- PSEN1 E273G
- PSEN1 R377W
- PSEN2 K161R
- APP Duplication 0.83Mb (French)
- APP Duplication 1.6Mb (French)
- APP Duplication 1.18Mb (French)
- APP Duplication 6Mb (French)
- APP Duplication 9.7Mb (French)
- APP Duplication 14.2Mb (French)
- APP Duplication 14.7Mb (French)
- PSEN1 Y115C
- PSEN1 T116I
- PSEN1 Q223R
- PSEN1 M233I (G>C)
- PSEN1 A260V
- PSEN1 V391F
- PSEN2 R71W
- PSEN2 M239V
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