Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype

Basic Research in Cardiology

Volumn 108, Issue 3, 2013, Pages

  Limberg, Maren M ^a   Zumhagen, Sven ^b   Netter, Michael F ^a   Coffey, Alison J ^c   Grace, Andrew ^d,e   Rogers, Jane ^c   Böckelmann, Doris ^b   Rinné, Susanne ^a   Stallmeyer, Birgit ^b   Decher, Niels ^a   Schulze Bahr, Eric ^b  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e PAPWORTH HOSPITAL   (United Kingdom)

Author keywords

Andersen Tawil syndrome; Arrhythmia; Kir2.1; LQT syndrome

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1;

ADOLESCENT; ADULT; ANDERSEN SYNDROME; ANIMAL CELL; ARTICLE; BODY DYSMORPHIC DISORDER; CELLULAR DISTRIBUTION; CLINICAL FEATURE; CONTROLLED STUDY; ENDOSOME; EXON; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HEART ARRHYTHMIA; HETEROZYGOSITY; HUMAN; HUMAN CELL; KCNE1 GENE; KCNE2 GENE; KCNH2 GENE; KCNJ2 GENE; LQTS GENE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PARALYSIS; PHENOTYPE; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SCN5A GENE; SKELETAL MUSCLE PARALYSIS;

EID: 84876838550     PISSN: 03008428     EISSN: 14351803     Source Type: Journal    
DOI: 10.1007/s00395-013-0353-1     Document Type: Article

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