The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families
- Author
- CHUN WANG1 ; HAO ZHANG1 ; KE, Yao-Hua1 ; ZHANG, Zhen-Lin1 ; HE, Jin-Wei1 ; GU, Jie-Mei1 ; HU, Wei-Wei1 ; HU, Yun-Qiu1 ; MIAO LI1 ; LIU, Yu-Juan1 ; FU, Wen-Zhen1 ; HUA YUE1
[1] Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People's Hospital Affiliated with Shanghai Jiao Tong University, 600 Yishan Road, Shanghai 200233, China - Source
Journal of bone and mineral metabolism (English ed.). 2012, Vol 30, Num 3, pp 338-348, 11 p ; ref : 29 ref
- ISSN
- 0914-8779
- Scientific domain
- Rheumatology
- Publisher
- Springer, Tokyo
- Publication country
- Japan
- Document type
- Article
- Language
- English
- Author keyword
- CLCN7 Mutation Osteopetrosis Phenotype
- Keyword (fr)
- Etude familiale Mutation Ostéopétrose Phénotype Rhumatologie Maladie héréditaire Ostéochondrodysplasie Pathologie du système ostéoarticulaire
- Keyword (en)
- Family study Mutation Osteopetrosis Phenotype Rheumatology Genetic disease Osteochondrodysplasia Diseases of the osteoarticular system
- Keyword (es)
- Estudio familiar Mutación Osteopetrosis Fenotipo Reumatología Enfermedad hereditaria Osteocondrodisplasia Sistema osteoarticular patología
- 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
- 25878004
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
10.1007/s00774-011-0319-z 
https://dx.doi.org/10.1007/s00774-011-0319-z
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