MEDNIK syndrome: a new entry in the spectrum of inborn errors of copper metabolism

Copper homeostasis, including intestinal absorption, blood transport, uptake, trafficking and excretion, is regulated by multiple genes encoding for specific copper transporters, which coordinate copper bioavailability. Mutations in genes coding for copper pumps or copper chaperons are responsible f...

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Bibliographic Details
Main Authors: Gavino Faa (Author), Clara Gerosa (Author), Massimo Castagnola (Author)
Format: Book
Published: Hygeia Press di Corridori Marinella, 2020-05-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
Copy 1 Available