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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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