Identification of genetic alterations, as causative genetic defects in long QT syndrome, using next generation sequencing technology

PLoS ONE

Volumn 9, Issue 12, 2014, Pages

  Campuzano, Oscar ^a   Sarquella Brugada, Georgia ^b   Mademont Soler, Irene ^a   Allegue, Catarina ^a   Cesar, Sergi ^b   Ferrer Costa, Carles ^c   Coll, Monica ^a   Mates, Jesus ^a   Iglesias, Anna ^a   Brugada, Josep ^b   Brugada, Ramon ^a,d  

^a UNIVERSITY OF GIRONA   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c Gendiagexe   (Spain)

^d HOSPITAL JOSEP TRUETA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; MESSENGER RNA; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5; CONNECTIN; KCNQ1 PROTEIN, HUMAN; TTN PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CHILD; COPY NUMBER VARIATION; ELECTROCARDIOGRAM; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; KCNE1 GENE; KCNH2 GENE; KCNQ1 GENE; LONG QT SYNDROME 3; MALE; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PHENOTYPE; SCN5A GENE; TTN GENE; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; LONG QT SYNDROME; MULTIPLEX POLYMERASE CHAIN REACTION; PEDIGREE;

ADOLESCENT; CONNECTIN; FEMALE; GENE DELETION; GENETIC VARIATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PEDIGREE;

EID: 84918534128     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0114894     Document Type: Article

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