Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease.
作者信息
Brice A, Boch A L, Stevanin G, Khati C, Dubois B, Agid Y, Campion D, Clerget F, Mallet J, Bellis M
出版信息
J Neurol Neurosurg Psychiatry. 1993 Jan;56(1):112-3. doi: 10.1136/jnnp.56.1.112-a.
Abstract
摘要
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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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No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.
J Med Genet. 1996 Aug;33(8):661-4. doi: 10.1136/jmg.33.8.661.
本文引用的文献
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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.
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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.
3
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.
4
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.
5
APP717, APP693, and PRIP gene mutations are rare in Alzheimer disease.APP717、APP693和PRIP基因突变在阿尔茨海默病中较为罕见。
Am J Hum Genet. 1991 Sep;49(3):511-7.
6
Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease.日本家族性阿尔茨海默病中淀粉样前体蛋白基因第17外显子的错义突变Val----Ile
Lancet. 1991 Apr 20;337(8747):978-9. doi: 10.1016/0140-6736(91)91612-x.
7
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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