A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome
- Author
- PELLEGRINO, Pier Luigi1 ; BAFUNNO, Valeria2 ; IEVA, Riccardo1 ; BRUNETTI, Natale Daniele1 ; MAVILIO, Giovanni1 ; SESSA, Francesco2 ; GRIMALDI, Massimo1 ; MARGAGLIONE, Maurizio2 3 ; DI BIASE, Matteo1
[1] Cardiology Department, University of Foggia, Foggia, Italy
[2] Human Genetics Department, University of Foggia, Foggia, Italy
[3] Atherosclerosis and Thrombosis Unit, I.R.C.C.S. Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy - Source
The American journal of cardiology. 2007, Vol 99, Num 12, pp 1737-1740, 4 p ; ref : 23 ref
- CODEN
- AJCDAG
- ISSN
- 0002-9149
- Scientific domain
- Cardiology, blood circulation, phlebology
- Publisher
- Elsevier, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Alanine Appareil circulatoire Caractère autosomique Caractère dominant Cardiologie Etude familiale Gène Homme Maladie héréditaire Milieu familial Mutation Position Proline QT long Bloc cardiaque Cardiopathie Pathologie de l'appareil circulatoire Trouble de la conduction Trouble du rythme cardiaque
- Keyword (en)
- Alanine Circulatory system Autosomal character Dominant character Cardiology Family study Gene Human Genetic disease Family environment Mutation Position Proline Prolonged QT interval Heart block Heart disease Cardiovascular disease Conduction disorder Arrhythmia
- Keyword (es)
- Alanina Aparato circulatorio Carácter autosómico Carácter dominante Cardiología Estudio familiar Gen Hombre Enfermedad hereditaria Medio familiar Mutación Posición Prolina QT largo Bloque cardíaco Cardiopatía Aparato circulatorio patología Trastorno conducción Arritmia
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B12 Cardiology. Vascular system / 002B12A Heart / 002B12A02 Cardiac dysrhythmias
- Discipline
- Cardiology. Circulatory system
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20282427
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1016/j.amjcard.2007.01.056 
https://dx.doi.org/10.1016/j.amjcard.2007.01.056
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