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

Volumn 8, Issue 4, 2013, Pages

  Persu, Alexandre ^a,b   Lambert, Michel ^b   Deinum, Jaap ^c   Cossu, Marta ^c,d   de Visscher, Nathalie ^b   Irenge, Leonid ^a   Ambroise, Jerôme ^a   Minon, Jean Marc ^e   Nesterovitch, Andrew B ^f   Churbanov, Alexander ^g   Popova, Isolda A ^h   Danilov, Sergei M ⁱ   Danser, A H Jan ^j   Gala, Jean Luc ^a  

^a UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e Department of Laboratory Medicine Transfusion and Thrombosis Haemostasis Unit   (Belgium)

^f RUSH MEDICAL COLLEGE   (United States)

^g NEW MEXICO STATE UNIVERSITY   (United States)

^h NORTHWESTERN UNIVERSITY   (United States)

ⁱ UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^j ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BISOPROLOL; CAPTOPRIL; DIPEPTIDYL CARBOXYPEPTIDASE; HYDROCHLOROTHIAZIDE; LISINOPRIL; MESSENGER RNA; TELMISARTAN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ANGIOTENSIN I CONVERTING ENZYME GENE; ARTICLE; BLOOD ANALYSIS; CARDIOVASCULAR DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME BLOOD LEVEL; ENZYME STRUCTURE; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON RETENTION; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; RNA ANALYSIS; SPLICE SITE MUTATION; TRANSMEMBRANE ANCHOR; UPREGULATION;

ADOLESCENT; ADULT; AGED; ANGIOTENSIN-CONVERTING ENZYME INHIBITORS; ASYMPTOMATIC DISEASES; BASE SEQUENCE; BLOOD PRESSURE; CAPTOPRIL; DENDRITIC CELLS; FEMALE; GENE EXPRESSION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PEPTIDYL-DIPEPTIDASE A; RENIN-ANGIOTENSIN SYSTEM; SEQUENCE DELETION;

EID: 84875643220     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0059537     Document Type: Article

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