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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.

Persu A, Lambert M, Deinum J, Cossu M, de Visscher N, Irenge L, Ambroise J, Minon JM, Nesterovitch AB, Churbanov A, Popova IA, Danilov SM, Danser AH, Gala JL. 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. PLoS One. 2013; 8(4):e59537.

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