Identification and characterization of a novel genetic mutation with prolonged QT syndrome in an unexplained postoperative death

International Journal of Legal Medicine

Volumn 128, Issue 1, 2014, Pages 105-115

  Hata, Yukiko ^a   Mori, Hisashi ^a   Tanaka, Ayumi ^a   Fujita, Yosuke ^a   Shimomura, Takeshi ^a   Tabata, Toshihide ^a   Kinoshita, Koshi ^a   Yamaguchi, Yoshiaki ^a   Ichida, Fukiko ^a   Kominato, Yoshihiko ^b   Ikeda, Noriaki ^c   Nishida, Naoki ^a  

^a UNIVERSITY OF TOYAMA   (Japan)

^b GUNMA UNIVERSITY   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

Author keywords

Arrhythmia; Human ether go go related gene; Long QT syndrome; M579fs + 75X frameshift mutation; Patch clamp; Transmembrane pore domain

Indexed keywords

KCNH6 PROTEIN, HUMAN; MESSENGER RNA; POTASSIUM CHANNEL HERG;

ADULT; CASE REPORT; ELECTROCARDIOGRAPHY; FEMALE; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENETICS; HEART MUSCLE; HETEROZYGOTE DETECTION; HUMAN; LARYNGOSCOPY; LARYNX GRANULOMA; LONG QT SYNDROME; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; POSTOPERATIVE COMPLICATION; REFERENCE VALUE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; SUDDEN CARDIAC DEATH;

ADULT; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GRANULOMA, LARYNGEAL; HETEROZYGOTE DETECTION; HUMANS; LARYNGOSCOPY; LONG QT SYNDROME; MALE; MUTATION, MISSENSE; MYOCARDIUM; POLYMORPHISM, GENETIC; POSTOPERATIVE COMPLICATIONS; REFERENCE VALUES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSCRIPTION, GENETIC;

EID: 84891765619     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-013-0853-4     Document Type: Article

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