SMAD4 mutations found in unselected HHT patients
- Author
- GALLIONE, C. J1 ; RICHARDS, J. A2 ; PYERITZ, R. E7 ; MARCHUK, D. A1 ; LETTEBOER, T. G. W3 ; RUSHLOW, D4 ; PRIGODA, N. L4 ; LEEDOM, T. P1 ; GANGULY, A2 ; CASTELLS, A5 ; PLOOS VAN AMSTEL, J. K3 ; WESTERMANN, C. J. J6
[1] Duke University Medical Center, Durham, NC, United States
[2] Genetic Diagnostic Laboratory, University of Pennsylvania School of Medicine, Philadelphia, PA, United States
[3] DBG-Department of Medical Genetics, University Medical Center, Utrecht, Netherlands
[4] HHT Solutions, Toronto Western Hospital, Toronto, Canada
[5] Gastroenterology Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain
[6] St. Antonius Hospital, Nieuwegein, Netherlands
[7] Departments of Medicine & Genetics, Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA, United States - Source
Journal of medical genetics. 2006, Vol 43, Num 10, pp 793-797, 5 p ; ref : 36 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Génétique Homme Malade Mutation
- Keyword (en)
- Genetics Human Patient Mutation
- Keyword (es)
- Genética Hombre Enfermo Mutación
- 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
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18185425
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/jmg.2006.041517 
https://dx.doi.org/10.1136/jmg.2006.041517
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