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News Report for: APRIL-18-2011

Name Class
APRIL-18-2011PaperValle_2011_J.Pharmacol.Exp.Ther_338_125
Scacchi_2011_Clin.Chim.Acta_412_1341
MutationD134H_human-ACHE
Number214
DateApril 18, 2011
CommentValle et al. describe 19 SNPs in the ACHE gene correlated with catalytic properties and general cardiovascular functions. 7 coding (cSNPs), of which 4 are non-synonymous (one new). Protein expression of ACHE non-synonymous variant (D134H)D134H (SNP6) is impaired. D134H instability could be reversed in the D134H/R136Q mutant.Variation of the butyrylcholinesterase (BChE) and acetylcholinesterase (AChE) genes in coronary artery disease are also analysed by Scacchi et al.

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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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