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

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 Bel...

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主要な著者: Persu, Alexandre, Lambert, Michel, Deinum, Jaap, Cossu, Marta, de Visscher, Nathalie, Irenge, Leonid, Ambroise, Jerôme, Minon, Jean-Marc, Nesterovitch, Andrew B., Churbanov, Alexander, Popova, Isolda A., Danilov, Sergei M., Danser, A. H. Jan, Gala, Jean-Luc
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2013
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3613373/
https://ncbi.nlm.nih.gov/pubmed/23560051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0059537
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