Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients
- Autor
- PING YUAN1 ; ZHIHUI YUE2 ; YIMING WANG1 ; LIANGZHONG SUN2 ; WEIJUN HUANG1 ; BIN HU1 ; ZHIYUN YANG3 ; YUELIN HU4 ; HUA XIAO5 ; HUI SHI6 ; QING ZHOU7
[1] Department of Medical Genetics, Center for Genome Research, Zhongshan School of Medicine, Sun Yat-Sen University, 74 Zhongshan Road II, Guangzhou 510080, China
[2] Department of Paediatrics, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080, China
[3] Department of Radiology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou 510080, China
[4] Department of Radiology, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China
[5] Department of Neurological Rehabilitation, Guangzhou Women and Children's Medical Center, Guangzhou 510120, China
[6] Department of Paediatrics, Guangzhou Women and Children's Medical Center, Guangzhou 510623, China
[7] Department of Paediatrics, The People's Hospital of Yudu County, Ganzhou 342300, China - Fuente
Journal of bone and mineral metabolism (English ed.). 2011, Vol 29, Num 2, pp 251-256, 6 p ; ref : 31 ref
- ISSN
- 0914-8779
- Campo Científico
- Rheumatology
- Editor
- Springer, Tokyo
- País de la publicación
- Japan
- Tipo de documento
- Article
- Idioma
- English
- Palabra clave (fr)
- Enfant Mutation Ostéopétrose Rhumatologie Tumeur maligne Cancer Homme Maladie héréditaire Ostéochondrodysplasie Pathologie du système ostéoarticulaire
- Palabra clave (in)
- Child Mutation Osteopetrosis Rheumatology Malignant tumor Cancer Human Genetic disease Osteochondrodysplasia Diseases of the osteoarticular system
- Palabra clave (es)
- Niño Mutación Osteopetrosis Reumatología Tumor maligno Cáncer Hombre Enfermedad hereditaria Osteocondrodisplasia Sistema osteoarticular patología
- Clasificación
- 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
- Osteoarticular pathology
- Procedencia
- Inist-CNRS
- Base de datos
- PASCAL
- Identificador INIST
- 23965588
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/s00774-010-0228-6 
https://dx.doi.org/10.1007/s00774-010-0228-6
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