The T1048I mutation in <it>ATP7A</it> gene causes an unusual Menkes disease presentation
<p>Abstract</p> <p>Background</p> <p>The <it>ATP7A</it> gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes dis...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
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BMC,
2012-09-01T00:00:00Z.
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