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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。

Screening for the APP codon 670/671 mutations in Alzheimer's disease.

作者信息

Houlden H, Crawford F, Rossor M, Mullan M

机构信息

Department of Biochemistry, St. Mary's Hospital Medical School, Paddington, London, UK.

出版信息

Neurosci Lett. 1993 May 14;154(1-2):161-2. doi: 10.1016/0304-3940(93)90196-r.

Abstract

A mutation at codons 670 and 671 of exon 16 of the amyloid precursor protein has recently been identified as a cause of early onset familial Alzheimer's disease. Using restriction enzyme digestion, screening failed to reveal the occurrence of this mutation in 43 families with early onset, 31 families with late onset, 30 cases of sporadic Alzheimer's disease or 30 clinically normal individuals.

摘要

淀粉样前体蛋白第16外显子670和671密码子处的突变最近被确定为早发性家族性阿尔茨海默病的一个病因。通过限制性酶切消化进行筛查,结果未能在43个早发性家族、31个晚发性家族、30例散发性阿尔茨海默病患者或30名临床正常个体中发现该突变的发生。

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