一个新的早老素 1 突变，I202F，发生在一个以前预测的致病性位点，导致常染色体显性阿尔茨海默病。
A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease.
机构信息
Department of Neurology, Royal Gwent Hospital, Newport, Gwent, UK.
出版信息
Neurobiol Aging. 2011 Mar;32(3):556.e1-2. doi: 10.1016/j.neurobiolaging.2010.09.030. Epub 2010 Dec 7.
Abstract
We report a novel presenilin-1 (PSEN1) mutation, I202F occurring in a Welsh kindred with familial Alzheimer's disease. The average age at onset was 53 years. The I202F mutation occurs in alignment with previously reported PSEN1 mutations in the fourth transmembrane domain and confirms that PSEN1 mutations line up along transmembrane alpha-helices.
摘要
我们报道了一个新的早老素-1（PSEN1）突变，I202F，发生在一个有家族性阿尔茨海默病的威尔士家族中。发病的平均年龄为 53 岁。I202F 突变发生在第四跨膜域中先前报道的 PSEN1 突变的位置，证实 PSEN1 突变沿着跨膜α-螺旋排列。
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