Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
- Author
- FRISHBERG, Yaacov1 ; TOPAZ, Orit2 3 ; BERGMAN, Reuven2 3 ; BEHAR, Doron3 ; FISHER, Drora4 ; GORDON, Derek5 ; RICHARD, Gabriele6 ; SPRECHER, Eli2 3
[1] Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel
[2] Laboratory of Molecular Dermatology and Department of Dermatology, Rambam Medical Center, Haifa, Israel
[3] Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel
[4] Department of Radiology, Shaare Zedek Medical Center, Jerusalem, Israel
[5] Laboratory of Statistical Genetics, Rockefeller University, New York, NY, United States
[6] Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, United States - Source
Journal of molecular medicine (Berlin. Print). 2005, Vol 83, Num 1, pp 33-38, 6 p ; ref : 19 ref
- ISSN
- 0946-2716
- Scientific domain
- General medicine general surgery
- Publisher
- Springer, Berlin
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Calcinosis Hyperostosis Phosphate Proximal tubule
- Keyword (fr)
- Allèle Calcification Elément minéral Génétique Hyperostose Hyperphosphatémie Identification Lipocalcinogranulomatose symétrique Mutation Médecine Phosphore Récidivant Récidive Syndrome Peau pathologie Système ostéoarticulaire pathologie Trouble métabolisme Trouble équilibre hydroélectrolytique Tumeur bénigne
- Keyword (en)
- Allele Calcification Inorganic element Genetics Hyperostosis Hyperphosphatemia Identification Tumoral calcinosis Mutation Medicine Phosphorus Recurrent Relapse Syndrome Skin disease Diseases of the osteoarticular system Metabolic disorder Hydroelectrolytic balance disorder Benign neoplasm
- Keyword (es)
- Alelo Calcificación Elemento inorgánico Genética Hiperóstosis Hiperfosfatemia Identificación Lipocalcinogranulomatosis simétrica Mutación Medicina Fósforo Recidivante Recaida Síndrome Piel patología Sistema osteoarticular patología Trastorno metabolismo Trastorno equilibrio hidroelectrolítico Tumor benigno
- Classification
- Discipline
- Generalities in medical sciences
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16436382
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/s00109-004-0610-8 
https://dx.doi.org/10.1007/s00109-004-0610-8
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