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

Volumn 96, Issue 5, 2015, Pages 438-452

  Masi, L ^a   Beltrami, G ^a   Ottanelli, S ^a   Franceschelli, F ^a   Gozzini, A ^a   Zonefrati, R ^a   Galli, G ^a   Ciuffi, S ^a   Mavilia, C ^a   Giusti, F ^a   Marcucci, G ^a   Cioppi, F ^a   Colli, E ^a   Fossi, C ^a   Franchi, A ^a   Casentini, C ^a   Capanna, R ^a   Brandi, Maria Luisa ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Extra Skeletal calcification; Phosphatonin; Tumoral calcinosis

Indexed keywords

N ACETYLGALACTOSAMINYLTRANSFERASE; POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE;

CAFFEY DISEASE; CALCINOSIS; CASE REPORT; CELL CULTURE TECHNIQUE; CELL DIFFERENTIATION; CHILD; FEMALE; FLOW CYTOMETRY; GENETICS; HUMAN; HYPERPHOSPHATEMIA; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; OSTEOBLAST; PATHOLOGY; PEDIGREE; POLYMERASE CHAIN REACTION; PROCEDURES; STEM CELL;

BASE SEQUENCE; CALCINOSIS; CELL CULTURE TECHNIQUES; CELL DIFFERENTIATION; CHILD; FEMALE; FLOW CYTOMETRY; HUMANS; HYPEROSTOSIS, CORTICAL, CONGENITAL; HYPERPHOSPHATEMIA; MOLECULAR SEQUENCE DATA; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; OSTEOBLASTS; PEDIGREE; POLYMERASE CHAIN REACTION; STEM CELLS;

EID: 84937763143     PISSN: 0171967X     EISSN: 14320827     Source Type: Journal    
DOI: 10.1007/s00223-015-9974-8     Document Type: Article

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