Andersen-Tawil syndrome: A model of clinical variability, pleiotropy, and genetic heterogeneity

Annals of Medicine

Volumn 36, Issue SUPPL. 1, 2004, Pages 92-97

  Donaldson, Matthew R ^a   Yoon, Grace ^b   Fu, Ying Hui ^b   Ptacek, Louis J ^b,c  

^a UNIVERSITY OF UTAH   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Andersen Tawil syndrome; Channelopathy; Development; KCNJ2; Kir2.1; Long QT; Periodic paralysis; Pleiotropy; Variability

Indexed keywords

ACETAZOLAMIDE; ANTIARRHYTHMIC AGENT; DICLOFENAMIDE; ION CHANNEL; POTASSIUM; TERBUTALINE; THIAZIDE DIURETIC AGENT;

ANDERSEN SYNDROME; CHANNEL GATING; CONFERENCE PAPER; DISEASE SEVERITY; FAMILY; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HEART ARRHYTHMIA; HEART DISEASE; HUMAN; HYPOTHESIS; PARALYSIS; PATHOGENESIS; PLEIOTROPY; PRIORITY JOURNAL;

ARRHYTHMIA; GENETIC HETEROGENEITY; HUMANS; LONG QT SYNDROME; MUTATION; PARALYSIS, HYPERKALEMIC PERIODIC; POTASSIUM CHANNELS, INWARDLY RECTIFYING; SYNDROME;

EID: 2442682788     PISSN: 07853890     EISSN: None     Source Type: Journal    
DOI: 10.1080/17431380410032490     Document Type: Conference Paper

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