Article
Catechol-O-methyltransferase: effects of the val108met polymorphism on protein turnover in human cells.
Biochimica et biophysica acta - 1 Jan 2008
Doyle Anne E, Yager James D
Abstract excerpt
A single nucleotide polymorphism in the human COMT (catechol-O-methyltransferase) gene has been associated with increased risk for breast cancer and several CNS diseases and disorders. The G to A polymorphism causes a valine (val) to methionine (met) substitution at codon 108 soluble - (S)/158 membrane - (MB)-COMT, generating alleles encoding high and low-activity forms of the enzyme, COMT H and COMT L,...
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