Screening of 383 unrelated patients affe
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Zeynep TΓΌmer; Lisbeth Birk MΓΈller; Nina Horn
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Article
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2003
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John Wiley and Sons
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English
β 141 KB
Menkes disease (MD) is an X-linked multisystemic lethal disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. MD results from mutations in the ATP7A gene, which encodes a membrane-bound copper transporting P-type ATPase located in the trans-Golgi n