Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome

European Journal of Human Genetics

Volumn 6, Issue 2, 1998, Pages 129-133

  Neyroud, Nathalie ^a,b   Denjoy, Isabelle ^b   Donger, Claire ^a   Gary, Françoise ^c   Villain, Elisabeth ^d   Leenhardt, Antoine ^b   Benali, Karim ^e   Schwartz, Ketty ^a   Coumel, Philippe ^b   Guicheney, Pascale ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c CNRS   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e HÔPITAL ROBERT DEBRÉ   (France)

Author keywords

Jervell and Lange Nielsen syndrome; KvLQT1; Long QT syndrome; Potassium channel; QTC interval

Indexed keywords

POTASSIUM CHANNEL;

ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; HETEROZYGOTE; HUMAN; HUMAN CELL; LONG QT SYNDROME; MALE; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 13144267750     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200165     Document Type: Article

References (14)

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