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Article

Molecular genetic analysis of the <i>APEX nuclease</i> gene in amyotrophic lateral sclerosis

1 Jun 1999

Abstract excerpt

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...

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PMID: 10371543
DOI: 10.1212/wnl.52.9.1899

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