Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
- Author
- OLDRIDGE, M1 ; FORTUNA, A. M2 ; WILKIE, A. O. M1 ; MARINGA, M3 ; PROPPING, P3 ; MANSOUR, S4 ; POLLITT, C5 ; DECHIARA, T. M6 ; KIMBLE, R. B6 ; VALENZUELA, D. M6 ; YANCOPOULOS, G. D6
[1] Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
[2] Instituto de Genética Médica, Porto, Portugal
[3] Institut für Humangenetik, Rheinische Friedrich-Wilhelms-Universität, Bonn, Germany
[4] S.W. Thames Regional Genetics Service, St George's Hospital Medical School, Cranmer Terrace, London, United Kingdom
[5] Northern Region Genetics Service, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom
[6] Regeneron Pharmaceuticals, Inc., Tarrytown, New York, United States - Source
Nature genetics. 2000, Vol 24, Num 3, pp 275-278 ; ref : 23 ref
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Brachydactylie Doigt Développement embryonnaire Etude familiale Homme Membre supérieur Mutation Protein-tyrosine kinase Relation structure fonction Récepteur orphelin Gène ROR2 Enzyme Main pathologie Malformation Système ostéoarticulaire pathologie Transferases
- Keyword (en)
- Brachydactyly Finger Embryonic development Family study Human Upper limb Mutation Protein-tyrosine kinase Structure function relationship Orphan receptor Enzyme Disease of the hand Malformation Diseases of the osteoarticular system Transferases
- Keyword (es)
- Braquidactilia Dedo Desarrollo embrionario Estudio familiar Hombre Miembro superior Mutación Protein-tyrosine kinase Relación estructura función Receptor huérfano Enzima Mano patología Malformación Sistema osteoarticular patología Transferases
- Classification
- 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
- Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1295910
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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