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

Ссылки: