The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel.

Journal of medical genetics

Volumn 41, Issue 5, 2004, Pages

  Wang, Q ^a   Chen, S ^a   Chen, Q ^a   Wan, X ^a   Shen, J ^a   Hoeltge, G A ^a   Timur, A A ^a   Keating, M T ^a   Kirsch, G E ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL; VOLTAGE GATED NA+ CHANNEL NA(V)1.5A; VOLTAGE-GATED NA+ CHANNEL NA(V)1.5A;

ANIMAL; ARTICLE; CELL CULTURE; CELL LINE; ELECTRIC CONDUCTIVITY; GENE FREQUENCY; GENETICS; HUMAN; LONG QT SYNDROME; METABOLISM; MISSENSE MUTATION; PATCH CLAMP; PATHOPHYSIOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM;

ANIMALS; CELL LINE; CELLS, CULTURED; ELECTRIC CONDUCTIVITY; GENE FREQUENCY; HUMANS; LONG QT SYNDROME; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SODIUM CHANNELS;

EID: 3042802307     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2003.013300     Document Type: Article

References (0)