SCREENING OF AMYLOID PRECURSOR PROTEIN GENE MUTATION (APP717VAL-]ILE) IN SWEDISH FAMILIES WITH ALZHEIMERS-DISEASE

被引：4

作者：

ALMQVIST, E ^{[1
]}

LAKE, S ^{[1
]}

AXELMAN, K ^{[1
]}

JOHANSSON, K ^{[1
]}

WINBLAD, B ^{[1
]}

机构：

[1] KAROLINSKA INST,HUDDINGE UNIV HOSP,DEPT GERIAT MED,ALZHEIMERS DIS RES CTR,B56,S-14186 HUDDINGE,SWEDEN

来源：

JOURNAL OF NEURAL TRANSMISSION-PARKINSONS DISEASE AND DEMENTIA SECTION | 1993年 / 6卷 / 02期

关键词：

ALZHEIMERS DISEASE; CHROMOSOME-21; AMYLOID PRECURSOR PROTEIN; GENETICS; DOWNS SYNDROME;

D O I：

10.1007/BF02261009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Screening for the APP 717 Val --> Ile mutation in the amyloid precursor protein (APP) gene in 34 Swedish families with familial Alzheimer's disease (FAD), 16 sporadic cases of Alzheimer's disease and five patients with Down's syndrome (DS) failed to identify further cases of the mutation. These results suggests that the mutation is rare among Swedish families with Alzheimer's disease. In addition, we summarize present reports of the frequency of the mutation.

引用

页码：151 / 156

页数：6

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