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A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease
Menkes disease and occipital horn syndrome (OHS) are allelic, X-linked recessive copper-deficiency disorders resulting from mutations in ATP7A, or MNK. Classic Menkes disease has a severe phenotype, with death in early childhood, whereas OHS has a milder phenotype, with, mainly, connective-tissue ab...
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| Glavni autori: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
The American Society of Human Genetics
2001
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1235313/ https://ncbi.nlm.nih.gov/pubmed/11431706 |
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