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Neurology. 1999 Jun 10;52(9):1899-901.

Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis.

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1
Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Scotland.

Abstract

We analyzed genomic DNA from ALS patients for mutations in the apurinic/apyrimidinic endonuclease (APEX nuclease) gene. We identified three rare polymorphisms in the untranslated region of the gene and one common two-allele polymorphism (D148E). The allelic frequency D148E was significantly different in sporadic ALS patients compared with controls. A conserved amino acid change and a 4-base pair deletion were also identified in sporadic ALS patients. These data suggest that APEX nuclease may contribute to the etiology of ALS.

PMID:
10371543
[Indexed for MEDLINE]
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