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

Abstract

BACKGROUND 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. METHODS AND RESULTS Two Belgian families with a 8-16-fold increase in blood ACE level… (More)
DOI: 10.1371/journal.pone.0059537

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@inproceedings{Persu2013ANS, title={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}, author={Alexandre Persu and Michel Lambert and J. T. Deinum and Marta Cossu and Nathalie de Visscher and Leonid Irenge and J{\'e}r{\^o}me Ambroise and J M Minon and Andrew B. Nesterovitch and Alexander G. Churbanov and Isolda A. Popova and Sergei M Danilov and A. H. Jan Danser and Jean-Luc Gala}, booktitle={PloS one}, year={2013} }