Germline KRAS mutations cause Noonan syndrome
- Author
- SCHUBBERT, Suzanne1 ; ZENKER, Martin2 ; NGUYEN, Hoa4 ; WEST, Brian4 ; ZHANG, Kam Y. J4 ; SISTERMANS, Erik5 ; RAUCH, Anita2 ; NIEMEYER, Charlotte M3 ; SHANNON, Kevin1 8 ; KRATZ, Christian P3 ; ROWE, Sara L1 ; BÖLL, Silke3 ; KLEIN, Cornelia3 ; BOLLAG, Gideon4 ; VAN DER BURGT, Ineke5 ; MUSANTE, Luciana6 ; KALSCHEUER, Vera6 ; WEHNER, Lars-Erik7
[1] Department of Pediatrics, University of California, 513 Parnassus Avenue, San Francisco, California 94143, United States
[2] Institute of Human Genetics, University of Erlangen-Nuremberg, 91054 Erlangen, Germany
[3] Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany
[4] Plexxikon, Inc., 91 Bolivar Dr, Berkeley, California 94710, United States
[5] Department of Human Genetics, University Medical Center Nijmegen, 6500 HB Nijmegen, Netherlands
[6] Max Planck Institute of Molecular Genetics, 14195 Berlin, Germany
[7] Institute of Hum Genetics, University of Göttingen, 37075, Germany
[8] Comprehensive Cancer Center, University of California, San Francisco, California 94115, United States - Source
Nature genetics. 2006, Vol 38, Num 3, pp 331-336, 6 p ; ref : 30 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Lignée germinale Mutation Noonan syndrome Appareil circulatoire pathologie Maladie héréditaire Ostéochondrodysplasie Système nerveux pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Germ line Mutation Noonan syndrome Cardiovascular disease Genetic disease Osteochondrodysplasia Nervous system diseases Diseases of the osteoarticular system
- Keyword (es)
- Línea germinal Mutación Noonan síndrome Aparato circulatorio patología Enfermedad hereditaria Osteocondrodisplasia Sistema nervioso patología Sistema osteoarticular patología
- Classification
- 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 / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17712176
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
10.1038/ng1748 
https://dx.doi.org/10.1038/ng1748
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