Gene: [14q243/PSEN1] presenilin 1; Alzheimer disease 3 (early onset); [AD3 PS1 ]
REL | GEM:01q/PSEN2. |
REF | MUT,LOC "Brice A &: Am
J Med Genet, 60, 91-93, 1995 MUT,LOC "Campion D &: Neurology, 45, 80-85, 1995 MUT,LOC "Clark RF &: Hum Mol Genet, 4, 1347-1354, 1995a MUT,LOC "Clark RF &: Nature Genet, 11, 219-222, 1995b MUT,LOC "Cruts M &: Hum Mol Genet, 4, 1355-1364, 1995a MUT,LOC "Cruts M &: Hum Mol Genet, 4, 2363-2371, 1995b MUT,LOC "Mullan M &: Am J Med Genet, 60, 44-52, 1995 MUT,LOC "Mullan M &: Nature Genet, 2, 340-342, 1992 MUT "Rogaev EI &: Genomics, 40, 415-424, 1997 MUT,LOC "Schellenberg GD &: Science, 258, 668-671, 1992 CLO,SEQ,LOC "Sherrington R &: Nature, 375, 754-760, 1995 MUT,LOC "Sorbi S &: Lancet, 346, 439-440, 1995 MUT,LOC "St George-Hyslop P &: Nature Genet, 2, 330-334, 1992 MUT,LOC "Van Broeckhoven C &: Nature Genet, 2, 335-339, 1992 MUT,LOC "Van Duijn CM &: AJHG, 55, 714-727, 1994 MUT,LOC "Wasco W &: Nature Med, 1, 848-848, 1995 |
SWI | SWISSPROT: P49768 |
KEY | neu, mfd |
CLA | coding, basic |
LOC | 14 q24.3 |
MIM | MIM: 104311 |
SYN | AD3 PS1 |
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