Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome

Circulation: Cardiovascular Genetics

Volumn 6, Issue 3, 2013, Pages 279-289

  Boczek, Nicole J ^a   Best, Jabe M ^d   Tester, David J ^b   Giudicessi, John R ^a,c   Middha, Sumit ^e   Evans, Jared M ^e   Kamp, Timothy J ^d   Ackerman, Michael J ^a,b  

^a MAYO CLINIC   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

^c MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^e Mayo Clinic   (United States)

Author keywords

Arrhythmia; Calcium; Genetics; Ion channel; Long QT syndrome

Indexed keywords

CALCIUM CHANNEL L TYPE; GENOMIC DNA; GLUTAMIC ACID; PROLINE; SERINE; THREONINE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD DEATH; CONTROLLED STUDY; ELECTROCARDIOGRAM; EXOME; FAINTNESS; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HEART ARREST; HEART PALPITATION; HEART REPOLARIZATION; HUMAN; IMPLANTABLE CARDIOVERTER DEFIBRILLATOR; INDEL MUTATION; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATCH CLAMP; PEDIGREE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SINUS BRADYCARDIA; SYSTEMS BIOLOGY;

ADOLESCENT; ADULT; BASE SEQUENCE; CALCIUM CHANNELS, L-TYPE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENES, DOMINANT; HUMANS; LONG QT SYNDROME; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; YOUNG ADULT;

EID: 84884482008     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000138     Document Type: Article

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