Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia D...
Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization
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Author / Creator
Masi, L. , Beltrami, G. , Ottanelli, S. , Franceschelli, F. , Gozzini, A. , Zonefrati, R. , Galli, G. , Ciuffi, S. , Mavilia, C. , Giusti, F. , Marcucci, G. , Cioppi, F. , Colli, E. , Fossi, C. , Franchi, A. , Casentini, C. , Capanna, R. and Brandi, Maria Luisa
Publisher
New York: Springer US
Journal title
Language
English
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Publication information
Publisher
New York: Springer US
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Scope and Contents
Contents
Human disorders of phosphate (Pi) handling and skeletal mineralization represent a group of rare bone diseases. One of these disease is tumoral calcinosis (TC). In this study, we present the case of a patient with TC with a new
GALNT3
gene mutation. We also performed functional studies using an in vitro cellular model. Genomic DNA was extract...
Alternative Titles
Full title
Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1683348084
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1683348084
Other Identifiers
ISSN
0171-967X
E-ISSN
1432-0827
DOI
10.1007/s00223-015-9974-8
