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Intragenic Deletions at Atp7a in Mouse Models for Menkes Disease

✍ Scribed by Pamela Cunliffe; Vivienne Reed; Yvonne Boyd


Book ID
115615431
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
192 KB
Volume
74
Category
Article
ISSN
0888-7543

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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