Article
Human Preosteoblastic Cell Culture from a Patient with Severe Tumoral Calcinosis-Hyperphosphatemia Due to a New GALNT3 Gene Mutation: Study of In Vitro Mineralization.
Calcified tissue international - 1 May 2015
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, Brandi Maria Luisa
Abstract excerpt
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 extracted from peripheral blood collected from a teenage Caucasian girl...
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