Send to

Choose Destination
See comment in PubMed Commons below
Neurology. 1999 Jun 10;52(9):1899-901.

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

Author information

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


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.

[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Support Center