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Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS)

Lookup NU author(s): Dr Janine Tomkins, Susan Dempster, Steven Banner, 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.

Publication metadata

Author(s): Tomkins J, Dempster S, Banner SJ, Cookson MR, Shaw PJ

Publication type: Article

Publication status: Published

Journal: NeuroReport

Year: 2000

Volume: 11

Issue: 8

Pages: 1695-1697

ISSN (print): 0959-4965

ISSN (electronic): 1473-558X

Publisher: Lippincott Williams & Wilkins


DOI: 10.1097/00001756-200006050-00020

PubMed id: 10852227


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