Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein
- Author
- HO, N1 ; PUNTURIERI, A2 ; WILKIN, D1 ; SZABO, J1 ; JOHNSON, M3 ; WHALEY, J4 ; DAVIS, J1 ; CLARK, A1 ; WEISS, S2 ; FRANCOMANO, C1
[1] Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States
[2] Division of Hematology/Oncology, University of Michigan Comprehensive Cancer Center, The University of Michigan, Ann Arbor, Michigan, United States
[3] National Cancer Institute, National Institutes of Health, Bethesda, United States
[4] Proteomix, Inc., San Diego, California, United States - Source
Journal of bone and mineral research (Print). 1999, Vol 14, Num 10, pp 1649-1653 ; ref : 17 ref
- CODEN
- JBMREJ
- ISSN
- 0884-0431
- Scientific domain
- Cell biology, histology; Physiology, morphology; Rheumatology
- Publisher
- American Society for Bone and Mineral Research, Duham, NC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cathepsin K Enfant Expression génique Mutation faux sens Mutation non sens Protéine Pycnodysostose Cysteine endopeptidases Enzyme Homme Hydrolases Maladie héréditaire Malformation Ostéochondrodysplasie Peptidases Système ostéoarticulaire pathologie
- Keyword (en)
- Cathepsin K Child Gene expression Missense mutation Nonsense mutation Protein Pyknodysostosis Cysteine endopeptidases Enzyme Human Hydrolases Genetic disease Malformation Osteochondrodysplasia Peptidases Diseases of the osteoarticular system
- Keyword (es)
- Cathepsin K Niño Expresión genética Mutación falso sentido Mutación sin sentido Proteína Picnodisostosis Cysteine endopeptidases Enzima Hombre Hydrolases Enfermedad hereditaria Malformación Osteocondrodisplasia Peptidases 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
- 1968575
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
10.1359/jbmr.1999.14.10.1649 
https://dx.doi.org/10.1359/jbmr.1999.14.10.1649
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