Browsing by Author "Fugazzola, Laura"

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Digenic DUOX1 and DUOX2 mutations in cases with congenital hypothyroidism

Aycan, Zehra; Cangül, Hakan; Muzza, Marina; Bas, Veysel N.; Fugazzola, Laura; Chatterjee, V. Krishna; Persani, Luca; Schoenmakers, Nadia (Oxford University Press Inc, 2017)

Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result ...