Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.
Neuroreport
; 7(3): 801-5, 1996 Feb 29.
Article
em En
| MEDLINE
| ID: mdl-8733749
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Doença de Alzheimer
/
Proteínas de Membrana
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
1996
Tipo de documento:
Article