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

Church, Alistair, Prescott, Junita, Lillis, Suzanne, Rees, Janice, Chance, Patrick, Williamson, Kathryn and Morris, Huw R. 2011. A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease. Neurobiology of Aging 32 (3) , 556.e1-556.e2. 10.1016/j.neurobiolaging.2010.09.030

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Elsevier
ISSN:	0197-4580
Last Modified:	04 Nov 2015 14:26
URI:	https://orca.cardiff.ac.uk/id/eprint/80498

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