Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
- Author
- TARTAGLIA, Marco1 2 ; MEHLER, Ernest L3 ; KALIDAS, Kamini7 ; PATTON, Michael A7 ; KUCHERLAPATI, Raju S4 ; GELB, Bruce D1 8 ; GOLDBERG, Rosalie4 ; ZAMPINO, Giuseppe5 ; BRUNNER, Han G6 ; KREMER, Hannie6 ; VAN DER BURGT, Ineke6 ; CROSBY, Andrew H7 ; ION, Andra7 ; JEFFERY, Steve7
[1] Department of Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, United States
[2] Laboratorio di Metabolismo e Biochimica Patologica, Istituto Superiore di Sanità, Rome, Italy
[3] Department of Physiology and Biophysics, Mount Sinai School of Medicine, New, York, New York 10029, United States
[4] Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, United States
[5] Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Rome, Italy
[6] Department of Human Genetics, University Medical Centre, Nijmegen, Netherlands
[7] Department of Medical Genetics, St George's Hospital Medical School, London, United Kingdom
[8] Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, United States - Source
Nature genetics. 2001, Vol 29, Num 4, pp 465-468 ; ref : 32 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Mutation Noonan syndrome Protein-tyrosine-phosphatase Appareil circulatoire pathologie Enzyme Esterases Hydrolases Maladie héréditaire Ostéochondrodysplasie Phosphoric monoester hydrolases Système nerveux pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Mutation Noonan syndrome Protein-tyrosine-phosphatase Cardiovascular disease Enzyme Esterases Hydrolases Genetic disease Osteochondrodysplasia Phosphoric monoester hydrolases Nervous system diseases Diseases of the osteoarticular system
- Keyword (es)
- Mutación Noonan síndrome Protein-tyrosine-phosphatase Aparato circulatorio patología Enzima Esterases Hydrolases Enfermedad hereditaria Osteocondrodisplasia Phosphoric monoester hydrolases Sistema nervioso patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04C Molecular genetics / 002A04C02 Genes. Genome
- Discipline
- Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 14159128
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/ng772 
https://dx.doi.org/10.1038/ng772
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