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

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Persu, Alexandre ; Lambert, Michel ; Deinum, Jaap ; Cossu, Marta ; de Visscher, Nathalie ; Irenge, Leonid ; Ambroise, Jerôme ; Minon, Jean-Marc ; B. Nesterovitch, Andrew ; Churbanov, Alexander ; A. Popova, Isolda ; M. Danilov, Sergei ; H. Jan Danser, A. ; Gala, Jean-Luc
  • Publisher: Figshare
  • Related identifiers: doi: 10.1371/journal.pone.0059537
  • Subject: Biochemistry | Cell Biology | Genetics | Physiology | splice-site | mutation | angiotensin | i-converting | enzyme | causes | circulating | ace | deletion | transmembrane

<div><p>Background</p><p>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 respira... View more
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