瑞典一个患有淀粉样前体蛋白突变的阿尔茨海默病家族的遗传咨询。 - Suppr

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超能文献

Genetic counseling in a Swedish Alzheimer family with amyloid precursor protein mutation.

作者信息

Lannfelt L, Axelman K, Lilius L, Basun H

出版信息

Am J Hum Genet. 1995 Jan;56(1):332-5.

PMID:7825596

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801312/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aaa1/1801312/085dd91e7df2/ajhg00027-0341-a.jpg

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No evidence that common allelic variation in the Amyloid Precursor Protein (APP) gene confers susceptibility to Alzheimer's disease.没有证据表明淀粉样前体蛋白（APP）基因的常见等位基因变异会使人易患阿尔茨海默病。

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本文引用的文献

Low frequency of the APP 670/671 mutation in familial Alzheimer's disease in Sweden.瑞典家族性阿尔茨海默病中APP 670/671突变的低频率

Neurosci Lett. 1993 Apr 16;153(1):85-7. doi: 10.1016/0304-3940(93)90083-w.

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.载脂蛋白E：与β-淀粉样蛋白的高亲和力结合及晚发性家族性阿尔茨海默病中4型等位基因频率增加

Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1977-81. doi: 10.1073/pnas.90.5.1977.

Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene fails to identify new mutations in Swedish Alzheimer's disease patients.对β-淀粉样前体蛋白基因的第16和17外显子进行测序，未能在瑞典阿尔茨海默病患者中鉴定出新的突变。

Hum Mol Genet. 1993 Jul;2(7):1045-6. doi: 10.1093/hmg/2.7.1045.

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families.载脂蛋白E4等位基因的基因剂量与晚发型家族性阿尔茨海默病的风险

Science. 1993 Aug 13;261(5123):921-3. doi: 10.1126/science.8346443.

Lack of association between apolipoprotein E allele epsilon 4 and sporadic Alzheimer's disease.

Neurosci Lett. 1994 Mar 14;169(1-2):175-8. doi: 10.1016/0304-3940(94)90384-0.

Amyloid precursor protein mutation causes Alzheimer's disease in a Swedish family.淀粉样前体蛋白突变在一个瑞典家族中引发了阿尔茨海默病。

Neurosci Lett. 1994 Feb 28;168(1-2):254-6. doi: 10.1016/0304-3940(94)90463-4.

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease.阿尔茨海默病的临床诊断：美国国立神经疾病与中风研究所-阿尔茨海默病及相关疾病协会工作组在卫生与公众服务部阿尔茨海默病特别工作组主持下的报告。

Neurology. 1984 Jul;34(7):939-44. doi: 10.1212/wnl.34.7.939.

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.基因连锁研究表明，阿尔茨海默病并非单一的同质疾病。

Nature. 1990 Sep 13;347(6289):194-7. doi: 10.1038/347194a0.

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.由β-淀粉样前体蛋白基因第717密码子突变引起的早发性阿尔茨海默病。

Nature. 1991 Oct 31;353(6347):844-6. doi: 10.1038/353844a0.

A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease.与遗传性阿尔茨海默病相关的淀粉样前体蛋白中的一种突变。

Science. 1991 Oct 4;254(5028):97-9. doi: 10.1126/science.1925564.

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