Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
- Autor
- SOBACCHI, Cristina1 2 ; FRATTINI, Annalisa1 ; GRABOWSKI, Peter7 ; DEL FATTORE, Andrea8 ; MESSINA, Chiara9 ; ERRIGO, Gabriella9 ; COXON, Fraser P10 ; SCOTT, Debbie I10 ; TETI, Anna8 ; ROGERS, Michael J10 ; VEZZONI, Paolo1 ; VILLA, Anna1 11 ; GUERRINI, Matteo M1 2 ; HELFRICH, Miep H10 ; ABINUN, Mario3 4 ; PANGRAZIO, Alessandra1 ; SUSANI, Lucia1 ; BREDIUS, Robbert5 ; MANCINI, Grazia6 ; CANT, Andrew3 ; BISHOP, Nick7
[1] Institute of Biomedical Technologies, Consiglio Nazionale delle Ricerche, via F. Cervi 93, 20090 Segrate, Italy
[2] Istituto Clinico Humanitas, 20089 Rozzano, Italy
[3] Children's Bone Marrow Transplant Unit, Newcastle General Hospital, Newcastle upon Tyne NE4 6BE, United Kingdom
[4] Institute for Cellular Medicine, Faculty of Medicine, Newcastle upon Tyne NE4 6BE, United Kingdom
[5] Department of Pediatrics, Leiden University Medical Center, 2300 RC Leiden, Netherlands
[6] Department of Clinical Genetics, Erasmus University Medical Center, 3000 CA Rotterdam, Netherlands
[7] Academic Unit of Child Health, University of Sheffield, Sheffield S10 2TH, United Kingdom
[8] Department of Experimental Medicine, University of L'Aquila, 67100 L'Aquila, Italy
[9] Pediatric Hematology and Oncology Unit, University of Padova, 35122 Padova, Italy
[10] Bone & Musculoskeletal Programme, University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom
[11] Università Vita e Salute San Raffaele, Telethon Institute for Gene Therapy, 20090 Milan, Italy - Fuente
Nature genetics. 2007, Vol 39, Num 8, pp 960-962, 3 p ; ref : 15 ref
- Editor
- Nature Publishing Group, London
- País de la publicación
- United Kingdom
- Tipo de documento
- Article
- Idioma
- English
- Palabra clave (fr)
- Gène Homme Mutation Ostéoclaste Ostéopétrose Maladie héréditaire Os Ostéochondrodysplasie Système ostéoarticulaire pathologie Système ostéoarticulaire
- Palabra clave (in)
- Gene Human Mutation Osteoclast Osteopetrosis Genetic disease Bone Osteochondrodysplasia Diseases of the osteoarticular system Osteoarticular system
- Palabra clave (es)
- Gen Hombre Mutación Osteoclasto Osteopetrosis Enfermedad hereditaria Hueso Osteocondrodisplasia Sistema osteoarticular patología Sistema osteoarticular
- Clasificación
- 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
- Disciplina
- Eukaryotes genetics. Biological and molecular evolution Osteoarticular pathology
- Procedencia
- Inist-CNRS
- Base de datos
- PASCAL
- Identificador INIST
- 18948969
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/ng2076 
https://dx.doi.org/10.1038/ng2076
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