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Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease.

作者信息

Chartier-Harlin M C, Crawford F, Hamandi K, Mullan M, Goate A, Hardy J, Backhovens H, Martin J J, Broeckhoven C V

机构信息

Alzheimer's Disease Research Group, Department of Biochemistry, St. Mary's Hospital Medical School, London, U.K.

出版信息

Neurosci Lett. 1991 Aug 5;129(1):134-5. doi: 10.1016/0304-3940(91)90738-f.

DOI:10.1016/0304-3940(91)90738-f
PMID:1922963
Abstract

Screening for the APP717 mutation in 5 further families with early onset Alzheimer's disease failed to reveal further cases with this variant. Screening a further 100 normal individuals for this mutation also failed to reveal further occurrences of this variant in the general population. Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene (the exons which encode the beta-amyloid fragment) in pedigree FAD4 revealed them to be of normal sequence. The significance of these observations to the genetics of Alzheimer's disease is discussed.

摘要

相似文献

1
Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease.
Neurosci Lett. 1991 Aug 5;129(1):134-5. doi: 10.1016/0304-3940(91)90738-f.
2
Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile.家族性阿尔茨海默病中β-淀粉样前体蛋白基因开放阅读框和启动子突变的筛查：鉴定出另一例携带APP717缬氨酸→异亮氨酸突变的家系。
Hum Mol Genet. 1992 Jun;1(3):165-8. doi: 10.1093/hmg/1.3.165.
3
Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.85例早发性阿尔茨海默病患者中淀粉样前体蛋白基因突变（APP717：缬氨酸→异亮氨酸）缺失
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4
Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence.
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5
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.
6
Assessment of amyloid beta-protein precursor gene mutations in a large set of familial and sporadic Alzheimer disease cases.在大量家族性和散发性阿尔茨海默病病例中评估淀粉样β蛋白前体基因突变。
Am J Hum Genet. 1992 Aug;51(2):273-82.
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Screening of amyloid precursor protein gene mutation (APP 717 Val-->Ile) in Swedish families with Alzheimer's disease.瑞典阿尔茨海默病家族中淀粉样前体蛋白基因突变（APP 717 Val→Ile）的筛查。
J Neural Transm Park Dis Dement Sect. 1993;6(2):151-6. doi: 10.1007/BF02261009.
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Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease.淀粉样前体蛋白基因错义突变与家族性阿尔茨海默病的连锁分析。
Nature. 1991 Feb 21;349(6311):704-6. doi: 10.1038/349704a0.
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Clinical comparison of Alzheimer's disease in pedigrees with the codon 717 Val-->Ile mutation in the amyloid precursor protein gene.携带淀粉样前体蛋白基因密码子717缬氨酸突变为异亮氨酸突变的家族性阿尔茨海默病的临床比较。
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Screening for the APP codon 670/671 mutations in Alzheimer's disease.阿尔茨海默病中淀粉样前体蛋白（APP）密码子670/671突变的筛查。
Neurosci Lett. 1993 May 14;154(1-2):161-2. doi: 10.1016/0304-3940(93)90196-r.

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