Phenotype variability in patients carrying KCNJ2 mutations

Circulation: Cardiovascular Genetics

Volumn 5, Issue 3, 2012, Pages 344-353

  Kimura, Hiromi ^a   Zhou, Jun ^a,f   Kawamura, Mihoko ^a   Itoh, Hideki ^a   Mizusawa, Yuka ^a   Ding, Wei Guang ^a   Wu, Jie ^a   Ohno, Seiko ^a   Makiyama, Takeru ^b   Miyamoto, Akashi ^a   Naiki, Nobu ^a   Wang, Qi ^a   Xie, Yu ^a   Suzuki, Tsugutoshi ^c   Tateno, Shigeru ^d   Nakamura, Yoshihide ^e   Zang, Wei Jin ^f   Ito, Makoto ^a   Matsuura, Hiroshi ^a   Horie, Minoru ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

^b KYOTO UNIVERSITY   (Japan)

^c OSAKA CITY GENERAL HOSPITAL   (Japan)

^d CHIBA CARDIOVASCULAR CENTER   (Japan)

^e KINKI UNIVERSITY   (Japan)

^f XI'AN JIAOTONG UNIVERSITY   (China)

Author keywords

Andersen Tawil syndrome; CPVT; Ion channels; KCNJ2; Phenotype

Indexed keywords

ACETAZOLAMIDE; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; FLECAINIDE; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; MEXILETINE; PILSICAINIDE; VERAPAMIL;

ADOLESCENT; ADULT; ANDERSEN SYNDROME; ARTICLE; CARBOXY TERMINAL SEQUENCE; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ECG ABNORMALITY; ELECTROPHYSIOLOGY; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE REPRESSION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HUMAN; IMMUNOCYTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; ANDERSEN SYNDROME; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PREVALENCE; TACHYCARDIA, VENTRICULAR; YOUNG ADULT;

EID: 84864589879     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.111.962316     Document Type: Article

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