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Lookup NU author(s): Dr Janine Tomkins,
Dr Mark Cookson,
Professor Pamela Shaw
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DNA extracted from CNS tissue of 84 patients was screened by single- stranded conformation polymorphism (SSCP) and heteroduplex analysis for mutations in the apurinic/apyrimidinic endonuclease (APE) gene. One mutation was identified and characterized as a 4bp deletion in the 3'UTR. A rare polymorphism was identified in exon 3 and a common polymorphism in the coding region of exon 5. These results suggest that APE mutations do not account for a large number of ALS cases. (C) 2000 Lippincott Williams and Wilkins.
Author(s): Tomkins J, Dempster S, Banner SJ, Cookson MR, Shaw PJ
Publication type: Article
Publication status: Published
ISSN (print): 0959-4965
ISSN (electronic): 1473-558X
Publisher: Lippincott Williams & Wilkins
PubMed id: 10852227
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