Alpha-cardiac actin mutations produce atrial septal defects
- Author
- MATSSON, Hans1 ; EASON, Jacqueline2 ; GRANADOS-RIVERON, Javier2 ; POPE, Mark2 ; BU'LOCK, Frances8 ; COX, Jane8 ; ROBINSON, Thelma E2 ; FEIFEI SONG2 ; BROOK, David J2 ; MARSTON, Steven9 ; TRYBUS, Kathleen M3 ; DAHL, Niklas1 ; BOOKWALTER, Carol S3 ; KLAR, Joakim1 ; GUSTAVSSON, Peter1 ; SUNNEGARDH, Jan4 ; ENELL, Henrik5 ; JONZON, Anders6 ; VIKKULA, Miikka7 ; GUTIERREZ, Ilse7
[1] Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University and University Hospital, 75185 Uppsala, Sweden
[2] Institute of Genetics, University of Nottingham, Queen's Medical Centre, NG7 2UH Nottingham, United Kingdom
[3] Department of Molecular Physiology and Biophysics, University of Vermont, VT 05405 Burlington, United States
[4] Queen Silvia Children's Hospital, 416 85 Göteborg, Sweden
[5] Department of Pedriatics, County Hospital of Halmstad, 301 85 Halmstad, Sweden
[6] Children's Hospital, Uppsala University, 75185 Uppsala, Sweden
[7] Human Molecular Genetics (GEHU), Christian de Duve Institute, Université catholique de Louvain, 1200 Brussels, Belgium
[8] Department of Pediatric Cardiology, Glenfield Hospital, LE3 9QP Leicester, United Kingdom
[9] National Heart and Lung Institute, Imperial College, SW3 6LY London, United Kingdom - Source
Human molecular genetics (Print). 2008, Vol 17, Num 2, pp 256-265, 10 p ; ref : 42 ref
- Publisher
- Oxford University Press, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Actine Communication interauriculaire Génétique Mutation Cardiopathie Communication intracardiaque Maladie congénitale Malformation Pathologie de l'appareil circulatoire
- Keyword (en)
- Actin Atrial septal defect Genetics Mutation Heart disease Intracardiac defect Congenital disease Malformation Cardiovascular disease
- Keyword (es)
- Actina Comunicación interauricular Genética Mutación Cardiopatía Comunicación intracardíaca Enfermedad congénita Malformación Aparato circulatorio 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 / 002B12A08 Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
- Discipline
- Cardiology. Circulatory system Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20005847
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
10.1093/hmg/ddm302 
https://dx.doi.org/10.1093/hmg/ddm302
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