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Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease
Hutton, M., Busfield, F., Wragg, M., Crook, R., Perez-Tur, J., Clark, R., Prihar, G., Talbot, C., Phillips, H., Wright, K., Baker, M., Lendon, C., Duff, K., Martinez, A., Houlden, H., Nichols, A., Karran, E., Roberts, G., Roques, P., ... Goate, A. (1996). Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. NeuroReport, 7(3), 801-805. http://journals.lww.com/neuroreport/Abstract/1996/02290/Complete_analysis_of_the_presenilin_1_gene_in.29.aspx
The presenilin 1 gene has recently been identified as the locus on chromosome 14 which is responsible for a large proportion of early onset, autosomal dominantly inherited Alzheimer's disease (AD). We have elucidated the intron/exon structure of the gene and designed intronic primers to enable direct sequencing of the entire coding region (10 exons) of the presenilin gene in a large number of families. This strategy has enabled us to find a further two novel mutations in the gene. We discuss the distribution of mutations and the proportions of autosomal dominant AD with a mean age of onset below 60 years caused by mutations in this gene.