A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.

Human mutation

Volumn 21, Issue 5, 2003, Pages 552-

  Wehrens, Xander H T ^a   Rossenbacker, Tom ^a   Jongbloed, Roselie J ^a   Gewillig, Marc ^a   Heidbüchel, Hein ^a   Doevendans, Pieter A ^a   Vos, Marc A ^a   Wellens, Hein J J ^a   Kass, Robert S ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; BINDING SITE; CELL LINE; CELL MEMBRANE POTENTIAL; CHANNEL GATING; CHEMISTRY; GENETIC TRANSFECTION; GENETICS; HUMAN; LONG QT SYNDROME; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PATCH CLAMP; PHYSIOLOGY; SITE DIRECTED MUTAGENESIS;

BINDING SITES; CELL LINE; DNA; DNA MUTATIONAL ANALYSIS; HUMANS; ION CHANNEL GATING; LONG QT SYNDROME; MEMBRANE POTENTIALS; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; SODIUM CHANNELS; TRANSFECTION;

EID: 0037405812     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9136     Document Type: Article

References (0)