A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease

作者:Church Alistair; Prescott Junita; Lillis Suzanne; Rees Janice; Chance Patrick; Williamson Kathryn; Morris Huw R*
来源:Neurobiology of Aging, 2011, 32(3): 556.e1.
DOI:10.1016/j.neurobiolaging.2010.09.030

摘要

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.

  • 出版日期2011-3

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