MEDNIK Syndrome: A Defect of Copper Metabolism

Investigators at Bambino Gesu Children's Hospital, Rome, and other centers in Italy, Canada and France report an 8-year-old female Sephardic-Jewish patient with MEDNIK syndrome associated with a new AP1S1 homozygous mutation.

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Bibliographic Details
Main Author: J Gordon Millichap (Author)
Format: Book
Published: Pediatric Neurology Briefs Publishers, 2013-04-01T00:00:00Z.
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3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available