Not all pathogenic mutations are pathogenic: KCNH2 mutations in two sisters with tetralogy of Fallot

International Journal of Cardiology

Volumn 172, Issue 1, 2014, Pages 276-277

  Bhuiyan, Zahurul A ^a,c   Alswaid, Abdulrahman ^b   Belfiore, Marco ^c   Al Ghamdi, Saleh S ^f   Liang, Juno ^d   Schlaepffer, Jürg ^e  

^a Laboratoire de Génétique Moléculaire   (Switzerland)

^b KING ABDULLAH INTERNATIONAL MEDICAL RESEARCH CENTER   (Saudi Arabia)

^c Service de Génétique Médicale Maternité   (Switzerland)

^d BGI SHENZHEN   (China)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^f PRINCE SULTAN CARDIAC CENTER   (Saudi Arabia)

Author keywords

Exome sequencing; Genetics; Long QT syndrome; Tetralogy of Fallot; Unexpected findings

Indexed keywords

ARGININE; CYSTEINE; METHIONINE; VALINE; ERG1 POTASSIUM CHANNEL; POTASSIUM CHANNEL HERG;

ADOLESCENT; ARTERIAL TRUNK; ATRIOVENTRICULAR BLOCK; CASE REPORT; CHILD; DNA POLYMORPHISM; EXOME; FALLOT TETRALOGY; FEMALE; GATA4 GENE; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HEART ARRHYTHMIA; HEART DEPOLARIZATION; HEART MUSCLE CELL; HUMAN; JAG1 GENE; KCNH2 GENE; LETTER; LONG QT SYNDROME 2; NKX2.5 GENE; NOTCH1 GENE; PLASTIC SURGERY; PRIORITY JOURNAL; SCHOOL CHILD; SUDDEN CARDIAC DEATH; TBX1 GENE; TBX20 GENE; TBX5 GENE; VENTRICULAR PACEMAKER; ELECTROCARDIOGRAPHY; GENETICS; LONG QT SYNDROME; PATHOLOGY; PEDIGREE; SIBLING; TETRALOGY OF FALLOT;

ADOLESCENT; CHILD; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; EXOME; FEMALE; HUMANS; LONG QT SYNDROME; PEDIGREE; SIBLINGS; TETRALOGY OF FALLOT;

EID: 84894036594     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2013.12.242     Document Type: Article

References (8)

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