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Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism.

作者信息

Aldudo J, Bullido M J, Frank A, Valdivieso F

出版信息

Ann Neurol. 1998 Dec;44(6):985-6. doi: 10.1002/ana.410440624.

DOI:10.1002/ana.410440624
PMID:9851450
Abstract
摘要

相似文献

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Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism.早老素-1基因的错义突变E318G似乎是一种非致病性多态性。
Ann Neurol. 1998 Dec;44(6):985-6. doi: 10.1002/ana.410440624.
2
A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.一种与早发性常染色体显性阿尔茨海默病相关的新型早老素1错义突变（L153V）。
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Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region.阿尔茨海默病的分子遗传学：波兹南地区一组患者的早老素1基因分析
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The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort.
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Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.一个早发性阿尔茨海默病法国家庭中早老素-1基因第11外显子（密码子378）的错义突变及错配增强等位基因特异性扩增的传递研究。突变简讯第141号。在线。besancon@rockefeller1.univ.lyon1.fr
Hum Mutat. 1998;11(6):481. doi: 10.1002/(SICI)1098-1004(1998)11:6<481::AID-HUMU12>3.0.CO;2-Q.
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[A study on mutation of exon 5 of presenilin-1 in Alzheimer's disease].[阿尔茨海默病早老素-1基因第5外显子突变的研究]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Dec;16(6):349-52.
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S182 and STM2 gene missense mutations in sporadic Alzheimer disease.散发性阿尔茨海默病中S182和STM2基因错义突变
Am J Med Genet. 1996 Jul 26;67(4):429. doi: 10.1002/ajmg.1320670402.
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A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.一个患有早老性家族性阿尔茨海默病的日本家族中，早老素1基因第8外显子出现一种新的错义突变（G209R）。突变简报第254号。在线发布。
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A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.PSEN2基因中的一种新型突变（T430M）与一个早发性阿尔茨海默病家族中的可变表达相关。
Arch Neurol. 2003 Aug;60(8):1149-51. doi: 10.1001/archneur.60.8.1149.
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The Thr354Ile substitution in PSEN1:: disease-causing mutation or polymorphism?早老素1（PSEN1）中第354位苏氨酸（Thr）到异亮氨酸（Ile）的替换：致病突变还是多态性？
Neurology. 2006 Jun 27;66(12):1955-6. doi: 10.1212/01.wnl.0000219762.28324.a6.

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