Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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PHEX Phosphate Regulating Neutral Endopeptidase

Enzymes and Coenzymes Enzymes Hydrolases Peptide Hydrolases Endopeptidases Metalloendopeptidases

2 articoli — 2014-2020

RI Focus
Rachitismo ipofosforemico X-linked

L. Lucchetti, D. Fintini, M. Cappa, F. Emma

2020/7 — pag. 430-436 — DOI

X-linked hypophosphatemia (XLH) is an X-linked disorder with dominant penetration, caused by mutations in the PHEX gene, which encodes for an endopeptidase that is predominantly expressed in osteoblasts, osteocytes and odontoblasts. PHEX mutations ...

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Ma che gambe...!

F. Santoro

2014/8 — pag. 531-532

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