Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease

Circulation: Cardiovascular Genetics

Volumn 3, Issue 4, 2010, Pages 374-385

  Liu, Hui ^a,b   Zein, Loubna El ^a,b   Kruse, Martin ^c   Guinamard, Romain ^d   Beckmann, Alf ^b,c   Bozio, André ^b,c   Kurtbay, Güven ^c   Mégarbané, André ^e   Ohmert, Iris ^c   Blaysat, Gérard ^f   Villain, Elisabeth ^g   Pongs, Olaf ^c   Bouvagnet, Patrice ^a,b  

^a UNIVERSITÉ DE LYON   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d UNIVERSITÉ DE CAEN   (France)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f HÔPITAL MICHALLON   (France)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Bundle branch block; Genetics; Heart block; Ion channel; Sudden death

Indexed keywords

ION CHANNEL; SUMO PROTEIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL M4;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL SURFACE; CONTROLLED STUDY; ENDOCYTOSIS; FAMILY STUDY; FEMALE; FRANCE; GAIN OF FUNCTION MUTATION; GENE MUTATION; GENETIC CODE; GENETIC PREDISPOSITION; GENETIC SCREENING; HEART ATRIUM; HEART MUSCLE CELL; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; LEBANON; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PURKINJE CELL; SIGNAL TRANSDUCTION;

EID: 78649264172     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.109.930867     Document Type: Article

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