Catechol-o-methyltransferase activity in erythrocytes in Down's syndrome: family studies.
Catechol-O-methyltransferase (COMT) activity in erythrocytes was measured in six children with Down's syndrome and in their parents to determine if COMT activity is related to a gene on chromosome 21. A gene dosage effect was a possible explanation of the COMT value in three of the children but not in the other three.
D002394:Catechol O-Methyltransferase / Q000097:blood* / Q000235:genetics; D004299:Dopamine beta-Hydroxylase / Q000097:blood; D004314:Down Syndrome / Q000201:enzymology*; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans
D004299:Dopamine beta-Hydroxylase; D002394:Catechol O-Methyltransferase