Article
A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases.
Human molecular genetics - 22 May 2000
Shapira M, Tur-Kaspa I, Bosgraaf L, Livni N, Grant A D, Grisaru D, Korner M, Ebstein R P, Soreq H
Abstract excerpt
Hypersensitivity to acetylcholinesterase inhibitors (anti-AChEs) causes severe nervous system symptoms under low dose exposure. In search of direct genetic origin(s) for this sensitivity, we studied six regions in the extended 22 kb promoter of the ACHE gene in individuals who presented adverse responses to anti-AChEs and in randomly chosen controls. Two contiguous mutations, a T-->A substitution, disrupting a...
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