| Title | Claps | Level | Year | L/Y |
|---|---|---|---|---|
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Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis
C. Hayward, Shuna Colville, R. Swingler, D. Brock
Article 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 polymorp…
Article 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.
Published in
Neurology
|
13
|
6 | 1999 |
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