Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death

Circulation

Volumn 125, Issue 3, 2012, Pages 474-481

  Van Norstrand, David W ^a   Asimaki, Angeliki ^b   Rubinos, Clio ^c   Dolmatova, Elena ^b   Srinivas, Miduturu ^c   Tester, David J ^a   Saffitz, Jeffrey E ^b   Duffy, Heather S ^b   Ackerman, Michael J ^a  

^a MAYO CLINIC   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c STATE UNIVERSITY OF NEW YORK   (United States)

Author keywords

Arrhythmia; connexins; death; electrophysiology; genetics; sudden

Indexed keywords

CONNEXIN 43; DESMOPLAKIN; GENOMIC DNA; MUTANT PROTEIN; NERVE CELL ADHESION MOLECULE;

ALLELE; CONDUCTANCE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SEQUENCE; ELECTROPHYSIOLOGY; FEMALE; GAP JUNCTION; GENETIC CONSERVATION; HEART MUSCLE FIBER MEMBRANE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOSAICISM; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PATCH CLAMP; PRIORITY JOURNAL; REVIEW; SUDDEN INFANT DEATH SYNDROME; WILD TYPE;

EID: 85027941134     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.111.057224     Document Type: Review

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