Mutation Detection in the Menkes Gene Using the Protein Truncation Test
Menkes disease (MD) is a rare recessively inherited lethal disorder of copper metabolism. The gene ATP7A defective in MD consists of 23 exons and the coding region encompasses 4500 bp. About 300 distinct mutations, representing all types, have been identified in ATP7A. However all mutations identifi...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2008-01-01
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| Series: | Clinical Medicine Insights: Pathology |
| Online Access: | https://doi.org/10.4137/CPath.S565 |