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Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease
Classical Menkes disease is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A, which is located at Xq13.1-q21. ATP7A encodes a copper-transporting P-type ATPase and plays a critical role in development of the central nervous system. With rare exceptions involving sex chro...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2011
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3099248/ https://ncbi.nlm.nih.gov/pubmed/20497190 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2010.01451.x |
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