Article
Point mutation in the stalk of angiotensin-converting enzyme causes a dramatic increase in serum angiotensin-converting enzyme but no cardiovascular disease.
Circulation - 11 Sept 2001
Kramers C, Danilov S M, Deinum J, Balyasnikova I V, Scharenborg N, Looman M, Boomsma F, de Keijzer M H, van Duijn C, Martin S, Soubrier F, Adema G J
Abstract excerpt
BACKGROUND: Angiotensin-converting enzyme (ACE) metabolizes many small peptides and plays a key role in blood pressure regulation. Elevated serum ACE is claimed to be associated with an increased risk for cardiovascular disease. Previously, two families with dramatically increased serum ACE were described, but no systematic survey of affected individuals was performed, and the molecular background of this trait...
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