Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease

Chartier-Harlin, Marie-Christine, Crawford, Fiona, Hamandi, Khalid, Mullan, Mike, Goate, Alison, Hardy, John, Backhovens, Hubert, Martin, Jean-Jacques and Van Broeckhoven, Christine 1991. Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease. Neuroscience Letters 129 (1) , pp. 134-135. 10.1016/0304-3940(91)90738-F

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Abstract

Screening for the APP717 mutation in 5 further families with early onset Alzheimer's disease failed to reveal further cases with this variant. Screening a further 100 normal individuals for this mutation also failed to reveal further occurrences of this variant in the general population. Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene (the exons which encode the beta-amyloid fragment) in pedigree FAD4 revealed them to be of normal sequence. The significance of these observations to the genetics of Alzheimer's disease is discussed.

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:	0304-3940
Last Modified:	04 Jun 2017 08:36
URI:	https://orca.cardiff.ac.uk/id/eprint/81004

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