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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613373/
https://www.ncbi.nlm.nih.gov/pubmed/23560051
http://dx.doi.org/10.1371/journal.pone.0059537

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