Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome
- Author
- GOK, Faysal1 ; CHEFETZ, Llana2 ; INDELMAN, Margarita3 4 ; KOCAOGLU, Murat5 ; SPRECHER, Eli2 3 4
[1] Department of Pediatric Nephrology, Gulhane Military Medical School, Ankara, Turkey
[2] Center for Translational Genetics, Rappaport Institute for Research in the Medical Sciences, Israel Institute of Technology, Haifa, Israel
[3] Laboratory of Molecular Dermatology, Department of Dermatology, Rambam Health Care Campus, Haifa, Israel
[4] Bruce Rappaport Faculty of Medicine, Haifa, Israel
[5] Radiology, Gulhane Military Medical School, Ankara, Turkey - Source
Acta orthopaedica (Print). 2009, Vol 80, Num 1, pp 131-134, 4 p ; ref : 3/4 p
- ISSN
- 1745-3674
- Scientific domain
- Orthopedics traumatology
- Publisher
- Taylor & Francis, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Elément minéral Hyperostose Hyperphosphatémie Mutation Orthopédie Phosphore Pathologie du système ostéoarticulaire Trouble de l'équilibre hydroélectrolytique Trouble métabolique
- Keyword (en)
- Inorganic element Hyperostosis Hyperphosphatemia Mutation Orthopedics Phosphorus Diseases of the osteoarticular system Hydroelectrolytic balance disorder Metabolic disorder
- Keyword (es)
- Elemento inorgánico Hiperóstosis Hiperfosfatemia Mutación Ortopedia Fósforo Sistema osteoarticular patología Trastorno equilibrio hidroelectrolítico Trastorno metabolismo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system
- Discipline
- Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21257620
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
10.1080/17453670902807482 
https://dx.doi.org/10.1080/17453670902807482
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