Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy
- Author
- ECHANIZ-LAGUNA, Andoni1 2 ; CHASSAGNE, Maïté3 ; CERESUELA, Jennifer3 ; ROUVET, Isabelle4 ; PADET, Sylvie3 ; ACQUAVIVA, Cécile3 ; NATAF, Serge4 ; VINZIO, Stephane5 ; BOZON, Dominique6 ; DE CAMARET, Bénédicte Mousson3
[1] Département de Neurologie, Hôpitaux Universitaires, Strasbourg, France
[2] INSERM U692, Université de Strasbourg, Strasbourg, France
[3] Service des Maladies Héréditaires du Métabolisme, Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France
[4] Centre de Biotechnologie Cellulaire, Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France
[5] Département de Médecine Interne, Hôpitaux Universitaires, Strasbourg, France
[6] Unité de Cardiogénétique Moléculaire, Centre de Biologie et de Pathologie Est, CHU Lyon, Bron, France - Source
Journal of medical genetics. 2012, Vol 49, Num 2, pp 146-150, 5 p ; ref : 20 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cardiomyopathie Cardiopathie Déterminisme génétique Expression génique Génétique Homme Myopathie Pathologie de l'appareil circulatoire Perte Pathologie du myocarde
- Keyword (en)
- Cardiomyopathy Heart disease Genetic determinism Gene expression Genetics Human Myopathy Cardiovascular disease Loss Myocardial disease
- Keyword (es)
- Cardiomiopatía Cardiopatía Determinismo genético Expresión genética Genética Hombre Miopatía Aparato circulatorio patología Pérdida Miocardio patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B12 Cardiology. Vascular system / 002B12A Heart / 002B12A05 Myocarditis. Cardiomyopathies
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Cardiology. Circulatory system Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25416766
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
10.1136/jmedgenet-2011-100504 
https://dx.doi.org/10.1136/jmedgenet-2011-100504
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