SCN5A Rare Variants in Familial Dilated Cardiomyopathy Decrease Peak Sodium Current Depending on the Common Polymorphism H558R and Common Splice Variant Q1077del

Clinical and Translational Science

Volumn 3, Issue 6, 2010, Pages 287-294

  Cheng, Jianding ^a,b   Morales, Ana ^c   Siegfried, Jill D ^c   Li, Duanxiang ^c   Norton, Nadine ^c   Song, Junyao ^a   Gonzalez Quintana, Jorge ^c   Makielski, Jonathan C ^a   Hershberger, Ray E ^c  

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

^b SUN YAT SEN UNIVERSITY   (China)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Dilated cardiomyopathy; Ion channels; Polymorphism; Sodium current; Splice variants

Indexed keywords

COMPLEMENTARY DNA; SODIUM CHANNEL NAV1.5;

ARTICLE; CELL STRAIN HEK293; CHANNEL GATING; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; FAMILIAL DISEASE; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SODIUM CURRENT; VOLTAGE CLAMP;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CARDIOMYOPATHY, DILATED; FEMALE; HEK293 CELLS; HUMANS; ION CHANNEL GATING; MALE; MIDDLE AGED; MUSCLE PROTEINS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SODIUM CHANNELS; YOUNG ADULT;

EID: 78650248936     PISSN: 17528054     EISSN: 17528062     Source Type: Journal    
DOI: 10.1111/j.1752-8062.2010.00249.x     Document Type: Article

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