Alzheimer disease PS-1 exon 9 deletion defined

被引:47
作者
Prihar, G
Verkkoniemi, A
Perez-Tur, J
Crook, R
Lincoln, S
Moulden, H
Somer, M
Paetau, A
Kalimo, H
Grover, A
Myllykangas, L
Hutton, M
Hardy, J
Haltia, M
机构
[1] Mayo Clin Jacksonville, Jacksonville, FL 32224 USA
[2] Univ Helsinki, Cent Hosp, Dept Clin Neurosci, FIN-00290 Helsinki, Finland
[3] Univ Helsinki, Cent Hosp, Dept Pathol, FIN-00290 Helsinki, Finland
[4] Inst Biomed Valencia, Unitat Genet Mol, E-46010 Valencia, Spain
[5] Family Federat Finland, FIN-00101 Helsinki, Finland
[6] Univ Turku, Dept Pathol, FIN-20521 Turku, Finland
关键词
D O I
10.1038/13383
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:1090 / 1090
页数:1
相关论文
共 3 条
[1]   A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 [J].
Crook, R ;
Verkkoniemi, A ;
Perez-Tur, J ;
Mehta, N ;
Baker, M ;
Houlden, H ;
Farrer, M ;
Hutton, M ;
Lincoln, S ;
Hardy, J ;
Gwinn, K ;
Somer, M ;
Paetau, A ;
Kalimo, H ;
Ylikoski, R ;
Pöyhönen, M ;
Kucera, S ;
Haltia, M .
NATURE MEDICINE, 1998, 4 (04) :452-455
[2]   Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype [J].
Kwok, JBJ ;
Taddei, K ;
Hallupp, M ;
Fisher, C ;
Brooks, WS ;
Broe, GA ;
Hardy, J ;
Fulham, MJ ;
Nicholson, GA ;
Stell, R ;
Hyslop, PHS ;
Fraser, PE ;
Kakulas, B ;
Clarnette, R ;
Relkin, N ;
Gandy, SE ;
Schofield, PR ;
Martins, RN .
NEUROREPORT, 1997, 8 (06) :1537-1542
[3]  
PEREZTUR J, 1995, NEUROREPORT, V7, P204