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Exon duplications in the ATP7A gene: Frequency and Transcriptional Behaviour
BACKGROUND: Menkes disease (MD) is an X-linked, fatal neurodegenerative disorder of copper metabolism, caused by mutations in the ATP7A gene. Thirty-three Menkes patients in whom no mutation had been detected with standard diagnostic tools were screened for exon duplications in the ATP7A gene. METHO...
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| Main Authors: | , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
BioMed Central
2011
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3240829/ https://ncbi.nlm.nih.gov/pubmed/22074552 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-73 |
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