Article
Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe.
Clinical chemistry and laboratory medicine - 1 Jan 2006
Semmler Alexander, Stein Robert W, Caplan Luis, Danilov Sergei M, Klockgether Thomas, Linnebank Michael
Abstract excerpt
Elevated plasma levels of angiotensin converting enzyme (ACE) are associated with granulomatous diseases. However, several families of autosomal dominant hyper-ACE-emia without disease association have already been reported. Recently, the ACE mutation c.3705C>T (Pro1199Leu) was identified as the...
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