A novel splice-site mutation in angiotensin I-converting enzyme (ACE) gene, c.3691+1G>A (IVS25+1G>A), causes a dramatic increase in circulating ACE through deletion of the transmembrane anchor.

A novel splice-site mutation in angiotensin I-converting enzyme (ACE) gene, c.3691+1G>A (IVS25+1G>A), causes a dramatic increase in circulating ACE through deletion of the transmembrane anchor.

<h4>Background</h4>Angiotensin-converting enzyme (ACE) (EC 4.15.1) metabolizes many biologically active peptides and plays a key role in blood pressure regulation and vascular remodeling. Elevated ACE levels are associated with different cardiovascular and respiratory diseases.<h4>...

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Main Authors: Alexandre Persu, Michel Lambert, Jaap Deinum, Marta Cossu, Nathalie de Visscher, Leonid Irenge, Jerôme Ambroise, Jean-Marc Minon, Andrew B Nesterovitch, Alexander Churbanov, Isolda A Popova, Sergei M Danilov, A H Jan Danser, Jean-Luc Gala
Format: article
Language:EN
Published: Public Library of Science (PLoS) 2013
Subjects:
Medicine
R
Science
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Online Access:https://doaj.org/article/7bae9c93159b40f4b827531676f729e2
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